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Gene: Grm1 MGI:1351338

Gene Summary

Name:

glutamate receptor, metabotropic 1

Synonyms:

mGluR1, Grm1, rcw, Gprc1a, 4930455H15Rik, nmf373

Order Alleles

IMPC Data Collections

No Body Weight Data
Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

No results meet the p-value threshold

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

MicroCT E18.5

Embryo reconstruction

4 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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Human diseases caused by Grm1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Grm1 (3 diseases)
Human diseases predicted to be associated with Grm1 (1846 diseases)

The table below shows human diseases associated to Grm1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Spinocerebellar Ataxia 44	Gait ataxia, Spasticity, Dysdiadochokinesis, Delayed speech and language development, Ataxia, Dys...	OMIM:617691
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Gait ataxia, Dysdiadochokinesis, Absent speech, Dysmetria, Limb dysmetria	ORPHA:324262
Spinocerebellar Ataxia, Autosomal Recessive 13	Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Inability to walk, Ataxia, Dysmetria, T...	OMIM:614831

The table below shows human diseases predicted to be associated to Grm1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Photoparoxysmal Response 1	EEG with photoparoxysmal response	OMIM:132100
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups	EEG abnormality	OMIM:130300
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon	EEG abnormality	OMIM:130200
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Primary Orthostatic Tremor	Abnormality of extrapyramidal motor function, Tremor	ORPHA:238606
Posterior Column Ataxia	Impaired proprioception, Scoliosis, Ataxia, Impaired vibratory sensation	OMIM:176250
Episodic Ataxia, Type 1	Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor	OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor	OMIM:619491
Spinocerebellar Ataxia Type 15/16	Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t...	ORPHA:98769
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Hypogonadotropic hypogonadism, Ataxia	ORPHA:1180
Spinocerebellar Ataxia, X-Linked 2	Abnormality of extrapyramidal motor function, Ataxia	OMIM:302600
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Tremor, Hereditary Essential, 6	Vocal tremor, Head tremor, Kinetic tremor, Postural tremor	OMIM:618866
Tremor, Hereditary Essential, 1	Hand tremor, Action tremor, Postural tremor	OMIM:190300
Episodic Ataxia With Slurred Speech	Gait ataxia, Slurred speech, Tremor	ORPHA:401953
Spinocerebellar Ataxia Type 4	Motor deterioration, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioceptio...	ORPHA:98765
X-Linked Spinocerebellar Ataxia Type 4	Abnormal pyramidal sign, Postural tremor, Dementia, Difficulty walking, Progressive cerebellar at...	ORPHA:85292
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
X-Linked Complicated Spastic Paraplegia Type 1	Cognitive impairment, Upper motor neuron dysfunction, Ataxia, Spastic paraplegia, Mental deterior...	ORPHA:306617
Spinocerebellar Ataxia 40	Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys...	OMIM:616053
Neuhauser-Eichner-Opitz Syndrome	Spasticity, Echolalia, Rigidity, Ataxia, Hypertonia	ORPHA:2672
Ataxia-Oculomotor Apraxia Type 1	Gait disturbance, Ataxia	ORPHA:1168
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Spinocerebellar Ataxia 20	Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor	OMIM:608687
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Tremor, Hereditary Essential, 4	Action tremor, Postural tremor	OMIM:614782
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto...	OMIM:314250
Episodic Ataxia Type 5	Truncal ataxia, Ataxia	ORPHA:211067
Episodic Ataxia, Type 8	Slurred speech, Episodic ataxia, Intention tremor, Ataxia	OMIM:616055
Myoclonus, Familial, 1	Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus	OMIM:614937
Atonic-Astatic Syndrome Of Foerster	Ataxia, Abasia, Inability to walk	OMIM:209100
Dystonia 27	Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni...	OMIM:616411
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Spinocerebellar Ataxia 37	Unsteady gait, Tremor, Frequent falls, Ataxia	OMIM:615945
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Nephrotic Syndrome, Type 18	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s...	OMIM:618178
Nephrotic Syndrome, Type 20	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:301028
Spinocerebellar Ataxia Type 31	Gait ataxia, Impaired vibratory sensation, Spasticity, Tremor	ORPHA:217012
Primary Dystonia, Dyt27 Type	Writer's cramp, Upper limb postural tremor, Limb dystonia, Focal dystonia, Axial dystonia, Action...	ORPHA:464440
Focal Segmental Glomerulosclerosis 8	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:616032
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban...	OMIM:614561
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Developmental Delay With Dysmorphic Facies And Dental Anomalies	Delayed speech and language development, Spasticity, Ataxia, EEG abnormality	OMIM:619228
Spinocerebellar Ataxia 43	Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment	OMIM:617018
Autosomal Recessive Spastic Paraplegia Type 71	Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity	ORPHA:401840
Scheuermann Disease	Morbus Scheuermann, Kyphosis	OMIM:181440
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Spinocerebellar Ataxia Type 38	Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking	ORPHA:423296
Cerebellar Ataxia, Cayman Type	Gait ataxia, Intention tremor, Truncal ataxia, Broad-based gait	OMIM:601238
Neuronopathy, Distal Hereditary Motor, Type Viia	Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis	OMIM:158580
Lipoprotein Glomerulopathy	Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria	OMIM:611771
Spastic Paraplegia 72, Autosomal Recessive	Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic...	OMIM:615625
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:610297
Cerebellar Ataxia, Cayman Type	Gait ataxia, Truncal ataxia, Intention tremor, Broad-based gait, Nonprogressive cerebellar ataxia	ORPHA:94122
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:617783
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Cognitive impairment, Ataxia, Babinski sign, Tremor	OMIM:611105
Focal Segmental Glomerulosclerosis 7	Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta...	OMIM:616002
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Cognitive impairment, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, ...	ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 6	Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements	OMIM:611092
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor	OMIM:612437
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements	OMIM:611031
Nephrotic Syndrome, Type 17	Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta...	OMIM:618176
Focal Segmental Glomerulosclerosis 10	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien...	OMIM:256020
Nephrotic Syndrome, Type 23	Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper...	OMIM:619201
Lichtenstein-Knorr Syndrome	Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor	OMIM:616291
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Nephropathy, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Spastic parapl...	OMIM:182690
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Abnormal pyramidal sign, Cognitive impairment, Motor deterioration, Clumsiness, Abnor...	ORPHA:79262
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Gait ataxia, Delayed speech and language development, Limb ataxia	ORPHA:284282
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Gait disturbance, Kinetic tremor	OMIM:611808
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ...	OMIM:607688
Spinocerebellar Ataxia Type 23	Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep...	ORPHA:101108
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia	OMIM:300911
Progressive Myoclonic Epilepsy Type 1	Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Focal Segmental Glomerulosclerosis 2	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros...	OMIM:603965
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle...	OMIM:619263
Chromosome 15Q11-Q13 Duplication Syndrome	Echolalia, EEG abnormality, Impaired social interactions, Truncal ataxia, Delayed speech and lang...	OMIM:608636
Oculorenocerebellar Syndrome	Nephropathy, Choreoathetosis, Spastic diplegia, Glomerular sclerosis	OMIM:257970
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia	ORPHA:2589
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait	OMIM:616921
Focal Segmental Glomerulosclerosis 5	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:613237
Roussy-Lévy Syndrome	Gait ataxia, Somatic sensory dysfunction, Urinary bladder sphincter dysfunction, Postural tremor,...	ORPHA:3115
Autosomal Spastic Paraplegia Type 72	Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity, Memory impairment	ORPHA:401849
Tremor, Hereditary Essential, 2	Upper limb postural tremor, Kinetic tremor	OMIM:602134
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Spastic tetraparesis, Delayed speech and language development, Ataxia	OMIM:619061
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria	OMIM:607832
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia	OMIM:618425
Primary Dystonia, Dyt13 Type	Postural tremor, Limb dystonia, Torticollis, Torsion dystonia, Focal dystonia, Action tremor, Cra...	ORPHA:98807
Spastic Ataxia 2, Autosomal Recessive	Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t...	OMIM:611302
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Galloway-Mowat Syndrome 5	Spasticity, Epicanthus, Stage 5 chronic kidney disease, Ataxia, Proteinuria, Steroid-resistant ne...	OMIM:617731
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban...	ORPHA:363710
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Ataxia, Gait disturbance, Dementia	ORPHA:2274
Sandhoff Disease, Adult Form	Gait ataxia, Spasticity, Anxiety, Focal dystonia, Tremor, Mental deterioration, Dystonia, Fascicu...	ORPHA:309169
Spinocerebellar Ataxia Type 40	Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,...	ORPHA:423275
Nephrotic Syndrome, Type 9	Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy...	OMIM:615573
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par...	OMIM:605407
Spinocerebellar Ataxia 35	Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti...	OMIM:613908
Spinocerebellar Ataxia 38	Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor	OMIM:615957
Nephrotic Syndrome, Type 26	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:620049
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait	ORPHA:494526
Spinocerebellar Ataxia, Autosomal Recessive 22	Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,...	OMIM:616948
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait	OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Ankle clonus, Cognitive impairment, Hypogonadism, Truncal ataxia, Limb ataxia, Babins...	OMIM:615768
Urocanase Deficiency	Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait	OMIM:276880
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia, Mental deterioration	OMIM:616187
Spastic Paraplegia 18, Autosomal Recessive	Kyphosis, Upper limb spasticity, Gait disturbance, Babinski sign, Spastic paraplegia, Scoliosis, ...	OMIM:611225
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Tremor, Gait disturbance, Resting tremor	OMIM:616710
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia	OMIM:600116
Spinocerebellar Ataxia Type 12	Poor fine motor coordination, Abnormal pyramidal sign, Cognitive impairment, Tremor by anatomical...	ORPHA:98762
X-Linked Non Progressive Cerebellar Ataxia	Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F...	ORPHA:314978
Spinocerebellar Ataxia Type 20	Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax...	ORPHA:101110
Galloway-Mowat Syndrome 2, X-Linked	Spasticity, Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis...	OMIM:301006
Nephrotic Syndrome, Type 15	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep...	OMIM:617609
Focal Segmental Glomerulosclerosis 6	Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria...	OMIM:614131
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro...	OMIM:601894
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Parkinson Disease 17	Resting tremor, Akinesia, Rigidity, Parkinsonism, Tremor, Bradykinesia	OMIM:614203
Dystonia 23	Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dystonia	OMIM:614860
Nephrotic Syndrome, Type 13	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:616893
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome	OMIM:614199
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 10	Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations	OMIM:613728
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Stage 5 chronic kidney disease, Claw hand deformity, Steppage gait, Proteinuria, Focal segmental ...	OMIM:614455
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable...	OMIM:260300
Dystonia, Dopa-Responsive	Gait ataxia, Spasticity, Impaired distal vibration sensation, Dysdiadochokinesis, Postural tremor...	OMIM:128230
Atypical Pantothenate Kinase-Associated Neurodegeneration	Chorea, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Inertia, Parkinsonism, Rigidit...	ORPHA:216873
Spinocerebellar Ataxia 18	Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor	OMIM:607458
Primary Dystonia, Dyt2 Type	Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt...	ORPHA:99657
Dystonia 16	Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait...	ORPHA:210571
Spinocerebellar Ataxia, Autosomal Recessive 25	Truncal ataxia, Dysmetria, Ataxia, Babinski sign	OMIM:617584
Spinocerebellar Ataxia 12	Dysdiadochokinesis, Parkinsonism, Dementia, Dysmetria, Head tremor, Axial dystonia, Action tremor...	OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 8	Gait ataxia, Spasticity, Kyphosis, Limb ataxia, Ataxia, Dysmetria, Scoliosis	OMIM:610743
Spinocerebellar Ataxia 23	Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Dysmetr...	OMIM:610245
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Ataxia, Delayed speech and language development, Inability to walk	OMIM:619333
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul...	OMIM:310468
Spinocerebellar Ataxia Type 14	Gait ataxia, Somatic sensory dysfunction, Cognitive impairment, Rigidity, Myoclonus, Limb ataxia,...	ORPHA:98763
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Ataxia, Myoclonus, Dementia	OMIM:208700
Corticobasal Syndrome	Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni...	ORPHA:454887
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Distal sensory impairment, Difficulty walking, Kyphosis	OMIM:617087
Huntington Disease-Like 2	Chorea, Inertia, Anxiety, Rigidity, Apathy, Dementia, Dystonia, Action tremor, Subcortical dement...	OMIM:606438
Spinocerebellar Ataxia 41	Gait ataxia, Unsteady gait, Ataxia	OMIM:616410
Focal Segmental Glomerulosclerosis 9	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis	OMIM:616220
Spinocerebellar Ataxia Type 28	Gait ataxia, Spasticity, Cognitive impairment, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia...	ORPHA:101109
Dystonia 11, Myoclonic	Anxiety, Writer's cramp, Torticollis, Myoclonus, Tremor, Panic attack, Agoraphobia	OMIM:159900
Dentatorubral-Pallidoluysian Atrophy	Chorea, Parkinsonism, Myoclonus, Choreoathetosis, Dementia, Ataxia, Dystonia	OMIM:125370
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Nephrotic Syndrome, Type 7	Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas...	OMIM:615008
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa...	OMIM:137950
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur...	OMIM:308990
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Tremor, Dystonia, Frequent falls	OMIM:619647
Dystonia With Cerebellar Atrophy	Torticollis, Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia	OMIM:611694
Nephrotic Syndrome, Type 2	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:600995
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula...	OMIM:607671
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu...	OMIM:616818
Intellectual Developmental Disorder, Autosomal Recessive 77	Unsteady gait, Head tremor	OMIM:619988
Nail-Patella-Like Renal Disease	Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria	ORPHA:2613
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Gait ataxia, Abnormal pyramidal sign, Cognitive impairment, Dysdiadochokinesis, Oculomotor apraxi...	OMIM:617145
Spinal Muscular Atrophy, Jokela Type	Tremor, Distal sensory impairment, Difficulty walking, Fasciculations	OMIM:615048
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:612551
Autosomal Dominant Spastic Ataxia Type 1	Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria...	ORPHA:251282
Urocanic Aciduria	Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait	ORPHA:210128
Iga Nephropathy, Susceptibility To, 2	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria	OMIM:613944
Dystonia 24	Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia	OMIM:615034
Nephrotic Syndrome, Type 14	Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacemen...	OMIM:617575
Spastic Paraplegia-Nephritis-Deafness Syndrome	Spasticity, Gait disturbance, Nephropathy, Paraplegia, Proteinuria	ORPHA:2820
Paroxysmal Exertion-Induced Dyskinesia	Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb...	ORPHA:98811
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Progressive gait ataxia, Clumsiness, Babinski sign, Intention tremor, Dysmetria, Diff...	ORPHA:284332
Spinocerebellar Ataxia Type 35	Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul...	ORPHA:276193
Galloway-Mowat Syndrome 8	Renal tubular atrophy, Enamel hypoplasia, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem...	OMIM:618349
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr...	OMIM:213600
Developmental And Epileptic Encephalopathy 38	Dystonia, Ataxia, Hypertonia	OMIM:617020
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Emotional lability, Babinsk...	OMIM:615362
Coenzyme Q10 Deficiency, Primary, 6	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr...	OMIM:614650
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria	OMIM:161900
Polymyoclonus, Infantile	Myoclonus, Irritability, Ataxia	OMIM:263550
Spinocerebellar Ataxia, X-Linked 1	Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor	OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 4	Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ...	OMIM:607317
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar...	OMIM:301310
Coenzyme Q10 Deficiency, Primary, 1	Nephrotic syndrome, Myoclonus, Right hemiplegia, Glomerular sclerosis, Ataxia, Loss of ambulation...	OMIM:607426
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Dementia, Anxiety, Dystonia, Bradykinesia	OMIM:605909
Alternating Hemiplegia Of Childhood 2	Choreoathetosis, Episodic quadriplegia, Hemiplegia, Ataxia, Tetraplegia, Mental deterioration, Dy...	OMIM:614820
Dystonia With Ringbinden	Chorea, Dystonia, Gait disturbance	OMIM:224550
Nephrotic Syndrome, Type 6	Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri...	OMIM:614196
Autosomal Recessive Spastic Paraplegia Type 67	Progressive spastic paraplegia, Spastic gait, Babinski sign, Difficulty walking, Lower limb spast...	ORPHA:401820
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Cognitive impairment, Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response ...	ORPHA:314632
Spastic Paraplegia 78, Autosomal Recessive	Gait ataxia, Aggressive behavior, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tr...	OMIM:617225
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2777
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Scoliosis	ORPHA:101078
Spinocerebellar Ataxia 48	Gait ataxia, Chorea, Anxiety, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Mental dete...	OMIM:618093
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo...	OMIM:613092
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Nephrotic syndrome, Synophrys, Ataxia, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Hea...	OMIM:619428
Ceroid Lipofuscinosis, Neuronal, 8	Delayed speech and language development, Myoclonus, Ataxia, EEG abnormality	OMIM:600143
Nephrotic Syndrome, Type 3	Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc...	OMIM:610725
Nephrotic Syndrome, Type 4	Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme...	OMIM:256370
Dystonia 28, Childhood-Onset	Retrocollis, Spasticity, Cognitive impairment, Tip-toe gait, Torticollis, Myoclonus, Gait disturb...	OMIM:617284
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Scoliosis	ORPHA:101075
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr...	OMIM:619155
Optic Atrophy 3, Autosomal Dominant	Abnormality of extrapyramidal motor function, Tremor	OMIM:165300
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Mental deterioratio...	OMIM:615924
Focal Segmental Glomerulosclerosis 1	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:603278
Epilepsy, Progressive Myoclonic, 11	Rigidity, Delayed speech and language development, Myoclonus, Ataxia, Giant somatosensory evoked ...	OMIM:618876
Brachyolmia Type 1, Toledo Type	Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Increased urinary disac...	OMIM:271630
Migraine, Familial Hemiplegic, 1	Hemiparesis, Ataxia, Hemiplegia, Tremor, Anxiety	OMIM:141500
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia	ORPHA:67047
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox...	ORPHA:53583
Nephrotic Syndrome, Type 12	Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot...	OMIM:616892
Cyanide-Induced Parkinsonism-Dystonia	Falls, Shuffling gait, Resting tremor, Rigidity, Parkinsonism, Short stepped shuffling gait, Brad...	ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive 6	Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Intention tremor	OMIM:608029
Nephronophthisis 13	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp...	OMIM:614377
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Progressive loss of facial adipose tissue, Hematuria, Membranoproliferative g...	OMIM:613913
Scholte Syndrome	Abnormal pyramidal sign, Epicanthus, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Upslant...	OMIM:300977
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Wrist flexion contracture, Spasticity, Postural tremor, Gait disturbance, Positive Romberg sign, ...	OMIM:616668
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Abnormal pyramidal sign, Cognitive impairment, Shuffling gait, Limb hypertonia, Parki...	OMIM:615528
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Anxiety, Rigidity, Apathy, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:240085
Frasier Syndrome	Nephrotic syndrome, Stage 5 chronic kidney disease, Primary amenorrhea, Proteinuria, Focal segmen...	OMIM:136680
Epilepsy, Progressive Myoclonic, 12	Myoclonus, Ataxia, Dysmetria, Difficulty walking, Anxiety, Mental deterioration	OMIM:619191
Spinocerebellar Ataxia 15	Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor	OMIM:606658
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Choreoathetosis, Tremor, Progressive neurologic deterioration, Hypertonia, Irritabilit...	OMIM:261630
Autosomal Recessive Spastic Paraplegia Type 70	Progressive spastic paraplegia, Hand tremor, Lower limb spasticity	ORPHA:401835
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Gait ataxia, Glomerulopathy, Postural tremor, Nephrotic syndrome, Myoclonus, Nephropathy, Unstead...	OMIM:254900
Spinocerebellar Ataxia Type 27	Gait ataxia, Aggressive behavior, Akinesia, Truncal ataxia, Limb ataxia, Hand tremor, Gait distur...	ORPHA:98764
Epilepsy, Progressive Myoclonic, 6	Myoclonus, Ataxia, Loss of ambulation, Tremor, Difficulty walking, Memory impairment	OMIM:614018
Dystonia 12	Parkinsonism, Torticollis, Emotional lability, Tremor, Anxiety, Unsteady gait, Dystonia, Bradykin...	OMIM:128235
Galloway-Mowat Syndrome 4	Spasticity, Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Di...	OMIM:617730
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s...	ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 14	Gait ataxia, Spasticity, Dysdiadochokinesis, Dysmetria, Unsteady gait, Intention tremor	OMIM:615386
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Torticollis, Myoclonus, Hand tremor, Limb dystonia, Or...	ORPHA:420485
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Paroxysmal Kinesigenic Dyskinesia	Chorea, Writer's cramp, Involuntary movements, Athetosis, Dystonia	ORPHA:98809
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Lim...	ORPHA:95434
Spastic Paraplegia 6, Autosomal Dominant	Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,...	OMIM:600363
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Athetosis, Dystonia	OMIM:615159
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Blepharospasm, Torsion dystonia, Tremor	OMIM:224500
Brunner Syndrome	Low frustration tolerance, Aggressive behavior, Self-injurious behavior, Kinetic tremor	OMIM:300615
Spinocerebellar Ataxia 19	Gait ataxia, Cognitive impairment, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwh...	OMIM:607346
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Dystonia 7, Torsion	Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu...	OMIM:602124
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to...	OMIM:606324
Huntington Disease-Like 1	Chorea, Aggressive behavior, Rigidity, Incoordination, Dementia, Dysmetria, Anxiety, Unsteady gait	OMIM:603218
Epilepsy, Familial Adult Myoclonic, 5	Myoclonus, Tremor	OMIM:615400
Spinocerebellar Ataxia 11	Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Progressive cerebellar ataxia	OMIM:604432
Ceroid Lipofuscinosis, Neuronal, 2	Delayed speech and language development, Abnormal nervous system electrophysiology, Ataxia, Myocl...	OMIM:204500
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi...	ORPHA:240103
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity	OMIM:619028
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Inability to walk, Choreoathetosis, Ptosis, Kyphoscoliosis, Tremor, Dystonia, Horsesh...	OMIM:617664
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ...	ORPHA:521406
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Chorea, Abnormal pyramidal sign, Parkinsonism, Ataxia, Hypoesthesia, Dysmetria, Slurred speech, D...	OMIM:618317
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae	OMIM:616566
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome	OMIM:617006
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Gait ataxia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Babinski sign, Intention tremor, Dys...	ORPHA:453521
3-Methylglutaconic Aciduria, Type Iii	Chorea, Spasticity, Cognitive impairment, Abnormality of extrapyramidal motor function, Ataxia, B...	OMIM:258501
Spinocerebellar Ataxia 7	Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo...	OMIM:164500
Brown-Vialetto-Van Laere Syndrome 2	Clumsiness, Ataxia, Organic aciduria, Kyphoscoliosis, Scoliosis, Tongue fasciculations	OMIM:614707
Frasier Syndrome	Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Hypergonadotropic hypogo...	ORPHA:347
Epilepsy, Familial Adult Myoclonic, 3	Myoclonus, Tremor, Difficulty walking	OMIM:613608
X-Linked Progressive Cerebellar Ataxia	Dysdiadochokinesis, Spastic dysarthria, Clumsiness, Progressive gait ataxia, Limb ataxia, Babinsk...	ORPHA:1175
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Thoracolumbar scoliosis, Flexion contracture of digit, Hypogonadism, Epicanthus, Thoracic kyphosi...	ORPHA:3041
Dentatorubral Pallidoluysian Atrophy	Gait ataxia, Blepharospasm, Cognitive impairment, Dysdiadochokinesis, Truncal ataxia, Myoclonus, ...	ORPHA:101
Valinemia	Hyperkinetic movements, Valinuria	OMIM:277100
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Spastic gait...	OMIM:614409
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria	OMIM:161950
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Distal sensory impairment	OMIM:618387
Spastic Paraplegia, Ataxia, And Mental Retardation	Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Ataxia, Spastic para...	OMIM:607565
Gordon Holmes Syndrome	Chorea, Secondary amenorrhea, Oligomenorrhea, Ataxia, Dementia, Primary amenorrhea, Hypogonadotro...	OMIM:212840
Spinal Muscular Atrophy, Ryukyuan Type	Kyphoscoliosis, Fasciculations	OMIM:271200
Galactosemia I	Aminoaciduria, Premature ovarian insufficiency, Galactosuria, Increased level of galactitol in ur...	OMIM:230400
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis	ORPHA:228169
Intellectual Developmental Disorder, Autosomal Recessive 48	Aggressive behavior, Inability to walk, Emotional lability, Tremor, Self-mutilation, Waddling gait	OMIM:616269
Lipodystrophy, Partial, Acquired, Susceptibility To	Nephrotic syndrome, Progressive loss of facial adipose tissue, Hematuria, Membranoproliferative g...	OMIM:608709
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Gait ataxia, Downslanted palpebral fissures, Spasticity, Hyperlordosis, Increased vertebral heigh...	OMIM:616817
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Wrist flexion contracture, Flexion contracture, Shuffling gait, Spastic tetraplegia, Spastic gait...	OMIM:300055
Atypical Juvenile Parkinsonism	Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor...	ORPHA:391411
Familial Dyskinesia And Facial Myokymia	Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia	ORPHA:324588
Galloway-Mowat Syndrome 6	Proteinuria, Focal segmental glomerulosclerosis, Epicanthus, Nephrotic syndrome	OMIM:618347
Ceroid Lipofuscinosis, Neuronal, 5	Dysdiadochokinesis, Motor deterioration, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambula...	OMIM:256731
Galloway-Mowat Syndrome 7	Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn...	OMIM:618348
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic...	ORPHA:54370
Neurodegeneration With Brain Iron Accumulation 3	Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Emoti...	OMIM:606159
Hyperekplexia 4	Distal arthrogryposis, Flexion contracture, Myoclonus, Camptodactyly, Inguinal hernia, Kyphoscoli...	OMIM:618011
Benign Adult Familial Myoclonic Epilepsy	Myoclonus, Hand tremor	ORPHA:86814
Spinocerebellar Ataxia 50	Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, Memory impairment	OMIM:620158
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Nephrotic Syndrome, Type 11	Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn...	OMIM:616730
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Gait ataxia, Urinary incontinence, Impaired distal vibration sensation, Abnormal pyramidal sign, ...	OMIM:616688
Autosomal Recessive Spastic Paraplegia Type 77	Progressive spastic paraplegia, Urinary incontinence, Detrusor sphincter dyssynergia, Neurogenic ...	ORPHA:466722
Spinocerebellar Ataxia Type 21	Gait ataxia, Cognitive impairment, Akinesia, Rigidity, Abnormality of extrapyramidal motor functi...	ORPHA:98773
Roussy-Levy Hereditary Areflexic Dystasia	Gait ataxia, Upper limb postural tremor, Kyphoscoliosis, Action tremor, Distal sensory impairment	OMIM:180800
Autosomal Recessive Spastic Paraplegia Type 48	Progressive spastic paraplegia, Urinary incontinence, Abnormality of the cervical spine, Urinary ...	ORPHA:306511
Spinocerebellar Ataxia, Autosomal Recessive 20	Short palpebral fissure, Spasticity, Inability to walk, Epicanthus, Apraxia, Camptodactyly, Ataxi...	OMIM:616354
Autosomal Spastic Paraplegia Type 58	Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Tip-...	ORPHA:397946
Genetic Steroid-Resistant Nephrotic Syndrome	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial...	ORPHA:656
Spinocerebellar Ataxia, Autosomal Recessive 2	Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor, Unsteady gait	OMIM:213200
Autosomal Dominant Polycystic Kidney Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Reduced sper...	ORPHA:730
Lower Motor Neuron Syndrome With Late-Adult Onset	Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf...	ORPHA:276435
Galloway-Mowat Syndrome 9	Stage 5 chronic kidney disease, Choreoathetosis, Almond-shaped palpebral fissure, Diffuse mesangi...	OMIM:619603
Spinocerebellar Ataxia 42	Impaired vibration sensation at ankles, Abnormal pyramidal sign, Cognitive impairment, Spastic at...	OMIM:616795
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r...	OMIM:611555
Spinocerebellar Ataxia 5	Gait ataxia, Cognitive impairment, Dysdiadochokinesis, Limb ataxia, Upper motor neuron dysfunctio...	OMIM:600224
Spinocerebellar Ataxia 27B, Late-Onset	Gait ataxia, Limb ataxia, Postural tremor	OMIM:620174
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Hyperlordosis, Kyphosis, Spinal rigidity, Short neck, Frequent falls, Scoliosis	OMIM:300718
Cataract-Ataxia-Deafness Syndrome	Tremor, Ataxia, Hypertonia	ORPHA:1368
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Progressive spastic paraplegia, Knee flexion contracture, Tip-toe gait, Babinski sign, Kyphoscoli...	ORPHA:496689
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Writer's cramp, Myoclonus, Hand tremor, Paroxysmal dystonia	OMIM:608105
Autosomal Dominant Spastic Paraplegia Type 6	Postural tremor, Gait disturbance, Babinski sign, Spastic paraplegia, Lower limb spasticity, Impa...	ORPHA:100988
Dystonia 31	Abnormal posturing, Difficulty walking, Parkinsonism	OMIM:619565
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Dystonia 16	Retrocollis, Abnormal pyramidal sign, Cognitive impairment, Postural tremor, Parkinsonism, Limb d...	OMIM:612067
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Spasticity, Inability to walk, Spastic tetraplegia, Spastic paraplegia, Kyphoscoliosis, Joint con...	OMIM:617977
Spinocerebellar Ataxia 17	Gait ataxia, Chorea, Aggressive behavior, Frontal lobe dementia, Parkinsonism, Rigidity, Myoclonu...	OMIM:607136
Rapid-Onset Dystonia-Parkinsonism	Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Emotional lability, Cranio...	ORPHA:71517
Paroxysmal Non-Kinesigenic Dyskinesia	Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp...	ORPHA:98810
Baker-Gordon Syndrome	Inability to walk, Epicanthus, Choreoathetosis, Ataxia, Scoliosis, Involuntary movements, Hyperki...	OMIM:618218
Parkinson Disease 21	Rigidity, Tremor, Bradykinesia, Parkinsonism	OMIM:616361
Spinocerebellar Ataxia, Autosomal Recessive 17	Gait ataxia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Broad-based gai...	OMIM:616127
Nephrotic Syndrome, Type 1	Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl...	OMIM:256300
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan...	OMIM:300423
Nemaline Myopathy 7	Knee flexion contracture, Gait disturbance, Waddling gait, Kyphoscoliosis, Frequent falls, Lumbar...	OMIM:610687
Spinocerebellar Ataxia 49	Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Dementia, Ataxia, Babinski sign...	OMIM:619806
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Scoliosis	ORPHA:99014
Infantile Neuronal Ceroid Lipofuscinosis	Poor fine motor coordination, Chorea, Spasticity, Cognitive impairment, Motor deterioration, Clum...	ORPHA:79263
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer...	ORPHA:567548
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Hyperlordosis, Tip-toe gait, Kyphosis, Spinal rigidity, Gait disturbance, Scoliosis, Lower limb s...	OMIM:617404
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia	OMIM:278780
Acromesomelic Dysplasia, Maroteaux Type	Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Beaking of vertebr...	ORPHA:40
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Rigidity, Ataxia, Bradykinesia, Fasciculations	OMIM:183050
Huntington Disease-Like 1	Poor fine motor coordination, Gait ataxia, Abnormal posturing, Chorea, Weight loss, Clumsiness, G...	ORPHA:157941
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	Hypergonadotropic hypogonadism, Ataxia	ORPHA:88637
Spinocerebellar Ataxia, Autosomal Recessive 30	Titubation, Ataxia, Dysmetria, Tremor, Unsteady gait	OMIM:619405
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Inability to walk, Kyphosis, Lumbar hyperlordosis, Ataxia, Scoliosis, Lower limb spasticity, Broa...	OMIM:616756
Spinocerebellar Ataxia, Autosomal Recessive 21	Gait ataxia, Spasticity, Paresthesia, Limb ataxia, Impaired pain sensation, Tremor, Frequent fall...	OMIM:616719
Developmental And Epileptic Encephalopathy 41	Spasticity, Flexion contracture, Inability to walk, Babinski sign, Kyphoscoliosis, Tetraparesis, ...	OMIM:617105
Whistling Face Syndrome, Recessive Form	Short palpebral fissure, Knee flexion contracture, Epicanthus, Blepharophimosis, Elbow flexion co...	OMIM:277720
Cednik Syndrome	Downslanted palpebral fissures, Hypogonadism, Nephrotic syndrome, Ataxia, Proteinuria	ORPHA:66631
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ...	OMIM:614817
Spinocerebellar Ataxia 44	Gait ataxia, Spasticity, Dysdiadochokinesis, Delayed speech and language development, Ataxia, Dys...	OMIM:617691
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Myoclonus, Tremor, Dystonia, Anxiety	OMIM:619651
X-Linked Dystonia-Parkinsonism	Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit...	ORPHA:53351
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Gait ataxia, Chorea, Impaired distal vibration sensation, Cognitive impairment, Truncal ataxia, O...	OMIM:208920
Myoclonic Epilepsy Of Unverricht And Lundborg	Ataxia, Myoclonus, Dementia, Mental deterioration	OMIM:254800
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Charcot-Marie-Tooth Disease Type 1A	Paresthesia, Gait imbalance, Gait disturbance, Kyphoscoliosis, Sensory ataxia, Distal sensory imp...	ORPHA:101081
Parkinson-Dementia Syndrome	Abnormal pyramidal sign, Parkinsonism, Rigidity, Dementia, Tremor	OMIM:260540
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Gait ataxia, Diminished motivation, Aggressive behavior, Cognitive impairment, Gait apraxia, Dysd...	OMIM:615157
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Gait disturbance, Spastic paraplegia, Upper limb hypertonia, Clonus, Impaired vibratory...	OMIM:614898
Parkinsonism-Dystonia 1, Infantile-Onset	Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor...	OMIM:613135
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem...	OMIM:618049
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia	OMIM:612716
Spinocerebellar Ataxia 21	Gait ataxia, Aggressive behavior, Cognitive impairment, Postural tremor, Parkinsonism, Akinesia, ...	OMIM:607454
Neurodegeneration With Brain Iron Accumulation 7	Ataxia, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Dystonia	OMIM:617916
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Abnormal pyramidal sign, Cognitive impairment, Gait disturbance, Emotional lability, ...	ORPHA:542310
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia, Ataxia	OMIM:613909
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Cognitive impairment, Rigidity, Gait disturbance, Ataxia, Dementia, ...	OMIM:603472
Gerstmann-Straussler Disease	Gait ataxia, Spasticity, Aggressive behavior, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, My...	OMIM:137440
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Gait ataxia, Dysdiadochokinesis, Babinski sign, Dysmetria, Vestibular areflexia, Progressive cere...	ORPHA:504476
Brachyolmia Type 1, Hobaek Type	Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Short neck, Scoli...	OMIM:271530
Spinocerebellar Ataxia, Autosomal Recessive 7	Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,...	OMIM:609270
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Falls, Parkinsonism, Rigidity,...	ORPHA:99750
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Bradykinesia, Resting tremor, Parkinsonism	OMIM:614251
Autosomal Recessive Spastic Paraplegia Type 23	Spastic gait, Spastic paraplegia, Kyphoscoliosis, Horseshoe kidney, Waddling gait	ORPHA:101003
Developmental And Epileptic Encephalopathy 69	Spastic tetraplegia, Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Arthrogrypos...	OMIM:618285
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hyperlordosis, Nephrotic syndrome, Gait disturbance, Nephropathy, Tremor, Hypertonia, Proteinuria	ORPHA:1192
Myopathy, spheroid body	Tremor, Broad-based gait, Waddling gait	OMIM:182920
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic...	OMIM:174000
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology...	ORPHA:84090
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Proteinuria, Hematuria	ORPHA:2134
Alport Syndrome	Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation...	ORPHA:63
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease	OMIM:617056
Developmental Delay And Seizures With Or Without Movement Abnormalities	Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia	OMIM:617836
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Epicanthus, Truncal ataxia, Myoclonus, Abnormal vertebral morphology, Ataxia, Dysm...	OMIM:250620
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Spasticity, Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Dysmetria, Slurred speec...	ORPHA:352403
Foxg1 Syndrome	Spasticity, Inability to walk, Myoclonus, Choreoathetosis, Kyphoscoliosis, Difficulty walking, Sc...	ORPHA:561854
Leukodystrophy, Hypomyelinating, 11	Ataxia, Spasticity, Tremor, Myoclonus	OMIM:616494
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor	OMIM:618587
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Spasticity, Inability to walk, Loss of ability to walk in early childhood, Ptosis,...	OMIM:612073
Masa Syndrome	Hyperlordosis, Shuffling gait, Kyphosis, Spastic paraplegia, Paraplegia, Lower limb spasticity	OMIM:303350
C3 Glomerulopathy	Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro...	ORPHA:329918
Dystonia 9	Abnormal pyramidal sign, Cognitive impairment, Paresthesia, Choreoathetosis, Episodic ataxia, Spa...	OMIM:601042
Aicardi-Goutieres Syndrome 9	Spasticity, Spastic diplegia, Recurrent urinary tract infections, Stage 5 chronic kidney disease,...	OMIM:619487
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Palpebr...	ORPHA:567546
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri...	ORPHA:567544
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic dysarthria,...	ORPHA:240094
Spinocerebellar Ataxia 29	Gait ataxia, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Truncal titubation, Impaired tand...	OMIM:117360
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Gait ataxia, Spasticity, Cognitive impairment, Oculomotor apraxia, Poor motor coordination, Ataxi...	ORPHA:1170
Spinal Arteriovenous Metameric Syndrome	Urinary bladder sphincter dysfunction, Abnormality of the kidney, Paraparesis, Kyphoscoliosis, Cu...	ORPHA:53721
Trisomy X	Multicystic kidney dysplasia, Epicanthus, Renal hypoplasia/aplasia, Secondary amenorrhea, Tremor,...	ORPHA:3375
Kufor-Rakeb Syndrome	Spasticity, Aggressive behavior, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Park...	OMIM:606693
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Gait ataxia, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor	OMIM:618090
Spinocerebellar Ataxia Type 2	Gait ataxia, Chorea, Postural tremor, Parkinsonism, Dementia, Kinetic tremor, Progressive cerebel...	ORPHA:98756
Proteus Syndrome	Downslanted palpebral fissures, Multiple lipomas, Limbal dermoid, Spinal canal stenosis, Ptosis, ...	OMIM:176920
Spastic Paraplegia 20, Autosomal Recessive	Impaired vibration sensation at ankles, Ankle clonus, Flexion contracture, Spastic gait, Upper li...	OMIM:275900
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome	ORPHA:839
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Bab...	ORPHA:101112
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Autosomal Recessive Spastic Paraplegia Type 46	Impaired vibration sensation at ankles, Abnormal pyramidal sign, Cognitive impairment, Truncal at...	ORPHA:320391
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Cognitive impairment, Myoclonus, Ataxia, Dementia, Tremor	OMIM:607876
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopamine, Tremor,...	ORPHA:276621
Spinocerebellar Ataxia Type 29	Gait ataxia, Cognitive impairment, Dysdiadochokinesis, Oculomotor apraxia, Ataxia, Dysmetria, Int...	ORPHA:208513
Beta-Propeller Protein-Associated Neurodegeneration	Aggressive behavior, Parkinsonism, Rigidity, Dementia, Spastic paraparesis, Tremor, Dystonia, Bra...	ORPHA:329284
Seckel Syndrome 8	Ectopic kidney, Kyphoscoliosis	OMIM:615807
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Gait ataxia, Dysdiadochokinesis, Absent speech, Dysmetria, Limb dysmetria	ORPHA:324262
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Premature ovarian insufficiency, Apraxia, Hand tremor, Ataxia, Babinski sign, Dementi...	OMIM:615889
Dopa-Responsive Dystonia	Inability to walk, Upper motor neuron dysfunction, Difficulty walking, Arm dystonia, Slurred spee...	ORPHA:255
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh...	ORPHA:363654
C3 Glomerulopathy 3	Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa...	OMIM:614809
Spondyloepiphyseal Dysplasia, Stanescu Type	Vertebral wedging, Kyphoscoliosis, Platyspondyly, Beaking of vertebral bodies, Waddling gait	OMIM:616583
Spinocerebellar Ataxia Type 17	Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Writer's cram...	ORPHA:98759
Progressive Supranuclear Palsy	Blepharospasm, Cognitive impairment, Falls, Rigidity, Dementia, Abnormal synaptic transmission, T...	ORPHA:683
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Spasticity, Babinski sign, Tremor, Steppage gait, Hypertonia, Mental deterioration, Distal sensor...	OMIM:609260
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Hyperphenylalaninemia, Bh4-Deficient, A	Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Progressive neurologic ...	OMIM:261640
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Congenital Disorder Of Glycosylation, Type Iik	Hemolytic-uremic syndrome, Kyphoscoliosis, Amelogenesis imperfecta	OMIM:614727
Dent Disease	Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re...	ORPHA:1652
Charcot-Marie-Tooth Disease Type 4D	Somatic sensory dysfunction, Inability to walk, Postural tremor, Kyphoscoliosis, Unsteady gait, D...	ORPHA:99950
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired distal vibration sensation, Polyminimyoclonus, Impaired tandem gait, Impaired pain sensa...	OMIM:619574
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Downslanted palpebral fissures, Kyphoscoliosis, Atlantoaxial abnormality, Shuffling gait	ORPHA:3433
Galloway-Mowat Syndrome 10	Stage 5 chronic kidney disease, Podocyte foot process effacement, Myoclonus, Diffuse mesangial sc...	OMIM:619609
Spinocerebellar Ataxia, Autosomal Recessive 18	Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, Delayed speech and language ...	OMIM:616204
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Gait ataxia, Impaired distal vibration sensation, Impotence, Dysdia...	OMIM:300623
Saccharopinuria	Gait ataxia, Cognitive impairment, Spastic diplegia, Tremor, Mental deterioration, Distal sensory...	ORPHA:3124
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb...	OMIM:609813
Dystonia 6, Torsion	Lingual dystonia, Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Torsion dystonia, Oroman...	OMIM:602629
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Postural tremor, Resting tremor, Akinesia, Clumsiness, Parkinsonism, Rigidity, Freezing of gait, ...	OMIM:619911
Brain Dopamine-Serotonin Vesicular Transport Disease	Cognitive impairment, Shuffling gait, Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric...	ORPHA:352649
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol...	OMIM:606703
Congenital Myopathy 13	Short palpebral fissure, Downslanted palpebral fissures, Flexion contracture, Blepharophimosis, P...	OMIM:255995
Classic Pantothenate Kinase-Associated Neurodegeneration	Increased susceptibility to fractures, Abnormal posturing, Spasticity, Tip-toe gait, Inability to...	ORPHA:216866
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Increased vertebral height, Platyspondyly	ORPHA:93304
Ichthyosis--Cheek--Eyebrow Syndrome	Kyphoscoliosis, Sparse lateral eyebrow	OMIM:146720
Perry Syndrome	Parkinsonism, Abnormality of extrapyramidal motor function, Apathy, Dementia, Tremor	ORPHA:178509
Spinocerebellar Ataxia, Autosomal Recessive 32	Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Torticollis, Limb atax...	OMIM:619862
Hyperphenylalaninemia, Bh4-Deficient, B	Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Progressive neurologic deterioration, Hyperki...	OMIM:233910
Galloway-Mowat Syndrome 3	Downslanted palpebral fissures, Spasticity, Nephrotic syndrome, Stage 5 chronic kidney disease, E...	OMIM:617729
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Somatic sensory dysfunction, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Back pain, Hemi...	ORPHA:199354
Congenital Muscular Dystrophy Without Intellectual Disability	Tip-toe gait, Achilles tendon contracture, Kyphoscoliosis, Frequent falls, Difficulty walking	ORPHA:370980
Sneddon Syndrome	Chorea, Hemiparesis, Dementia, Tremor, Mental deterioration, Memory impairment	ORPHA:820
Primary Dystonia, Dyt4 Type	Blepharospasm, Dysdiadochokinesis, Upper limb postural tremor, Torticollis, Gait disturbance, Kyp...	ORPHA:98805
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Renal insufficiency, Myoglobinuria	OMIM:255110
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia, Bradykinesia	ORPHA:306669
Ataxia With Vitamin E Deficiency	Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Dy...	ORPHA:96
Developmental And Epileptic Encephalopathy 37	Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Cogwheel rigidity, Hy...	OMIM:616981
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, A...	ORPHA:391417
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Impaired proprioception, Upper limb hypertonia, Clonus, Impaired vibratory sensation	ORPHA:319199
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Tremor, Frequent fall...	ORPHA:2590
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia	ORPHA:139485
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Ataxia, Proteinuria	ORPHA:225
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Rigidity, Dementia, Tremor, Progressive neurologic deterioration, Hypertonia	OMIM:176500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Knee flexion contracture, Hyperlordosis, Hip contracture, Tip-toe gait, Kyphosis, Achilles tendon...	OMIM:615290
Autosomal Recessive Ataxia, Beauce Type	Urinary incontinence, Spasticity, Ankle clonus, Kyphosis, Clumsiness, Gait disturbance, Upper mot...	ORPHA:88644
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Irregular vertebral endplates, Lumbar scoliosis, Secondary amenorrhea, Kyphoscoliosis, Platyspondyly	OMIM:612847
Denys-Drash Syndrome	Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome	ORPHA:220
Autosomal Recessive Spastic Paraplegia Type 9B	Spasticity, Impaired vibration sensation at ankles, Tip-toe gait, Pollakisuria, Spastic gait, Uri...	ORPHA:447760
Hereditary Pheochromocytoma-Paraganglioma	Renal cell carcinoma, Retinal capillary hemangioma, Elevated urinary epinephrine, Hematuria, Glom...	ORPHA:29072
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Flexion contracture, Inability to walk, Nephrotic syndrome, Epicanthus, En...	OMIM:617303
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Aggressive behavior, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Anxiety, Hy...	OMIM:619738
Charcot-Marie-Tooth Disease, Type 4K	Kyphoscoliosis, Dystonia, Difficulty walking, Ataxia	OMIM:616684
Nephrotic Syndrome, Type 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ...	OMIM:615244
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Inherited Creutzfeldt-Jakob Disease	Gait ataxia, Chorea, Bradykinesia, Abnormal pyramidal sign, Spastic dysarthria, Clumsiness, Myocl...	ORPHA:282166
Nemaline Myopathy 4	Kyphoscoliosis, Flexion contracture, Difficulty walking, Waddling gait	OMIM:609285
Combined Saposin Deficiency	Hyperkinetic movements, Myoclonus, Fasciculations, Babinski sign	OMIM:611721
Spinocerebellar Ataxia, Autosomal Recessive 13	Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Inability to walk, Ataxia, Dysmetria, T...	OMIM:614831
Spinocerebellar Ataxia 2	Urinary incontinence, Spasticity, Urinary bladder sphincter dysfunction, Dysdiadochokinesis, Post...	OMIM:183090
Thyrocerebrorenal Syndrome	Myoclonus, Nephritis, Slurred speech, Renal insufficiency, Nonprogressive cerebellar ataxia	ORPHA:3327
Spinocerebellar Ataxia Type 32	Cognitive impairment, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar a...	ORPHA:276183
Parkinson Disease 14, Autosomal Recessive	Frontotemporal dementia, Aggressive behavior, Spasticity, Ankle clonus, Resting tremor, Parkinson...	OMIM:612953
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia	OMIM:618951
Spinocerebellar Ataxia Type 36	Limb myoclonus, Truncal ataxia, Limb ataxia, Hand tremor, Ataxia, Babinski sign, Dysmetria, Head ...	ORPHA:276198
Glut1 Deficiency Syndrome 2	Tremor, Choreoathetosis, Dystonia, Ataxia	OMIM:612126
Parkinsonism With Polyneuropathy	Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ...	OMIM:619279
Schimke Immuno-Osseous Dysplasia	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Hemiparesis, Lumbar hyperlordosis, M...	ORPHA:1830
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Fatiguable weakness of proximal limb muscles, Lim...	ORPHA:90117
Spinocerebellar Ataxia 4	Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia, Babinski sign	OMIM:600223
Crigler-Najjar Syndrome Type 1	Tremor, Memory impairment	ORPHA:79234
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Resting tremor, Parkinsonism, Kyphoscoliosis, Tremor, Lower limb spasticity, Broa...	ORPHA:3077
Neurodegeneration With Brain Iron Accumulation 5	Aggressive behavior, Anxiety, Parkinsonism, Rigidity, Akinesia, Dementia, Spastic paraparesis, Tr...	OMIM:300894
Spinocerebellar Ataxia 6	Truncal ataxia, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Dysmetria, Slurred spee...	OMIM:183086
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Short palpebral fissure, Spasticity, Neuropathic spinal arthropathy, Apraxia, Camptodactyly, Atax...	ORPHA:397709
Adenine Phosphoribosyltransferase Deficiency	Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect...	ORPHA:976
Autosomal Dominant Spastic Paraplegia Type 9B	Spastic gait, Postural tremor, Spastic dysarthria, Progressive gait ataxia, Upper motor neuron dy...	ORPHA:447757
Combined Oxidative Phosphorylation Deficiency 24	Ptosis, Spasticity, Focal segmental glomerulosclerosis	OMIM:616239
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Abnormal pyramidal sign, Cognitive impairment, Titubation, Abnormality of extrapyrami...	ORPHA:280219
Dystonia 34, Myoclonic	Writer's cramp, Torticollis, Myoclonus, Hand tremor, Impaired tandem gait, Head tremor, Dystonia	OMIM:619724
Hypertrophic Neuropathy Of Dejerine-Sottas	Impaired distal vibration sensation, Kyphoscoliosis, Steppage gait, Scoliosis, Tongue fasciculati...	OMIM:145900
Schimke Immunoosseous Dysplasia	Nephrotic syndrome, Stage 5 chronic kidney disease, Lumbar hyperlordosis, Thoracic kyphosis, Shor...	OMIM:242900
Late-Infantile/Juvenile Krabbe Disease	Tetraplegia, Spastic diplegia, Clumsiness, Impaired tactile sensation, Gait disturbance, Upper mo...	ORPHA:206443
Behr Syndrome	Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babinski sign, Dysmetria, Tremo...	OMIM:210000
Hypouricemia, Renal, 1	Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R...	OMIM:220150
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Poor fine motor coordination, Impaired vibration sensation in the lower limbs, Spastic ataxia, Pr...	ORPHA:137898
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Kyphosis, Ataxia, Slurred speech, Scoliosis, Platyspondyly	OMIM:230650
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Chorea, Ataxia, Babinski sign, Kyphoscoliosis, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:604168
Amyloidosis, Familial Visceral	Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome	OMIM:105200
Cystathioninuria	Tremor, Nephrolithiasis, Cystathioninuria	ORPHA:212
Chromosome 2P16.1-P15 Deletion Syndrome	Short palpebral fissure, Downslanted palpebral fissures, Spasticity, Hypogonadism, Epicanthus, Bl...	OMIM:612513
Cln5 Disease	Spasticity, Aggressive behavior, Anxiety, Dysdiadochokinesis, Truncal ataxia, Clumsiness, Inabili...	ORPHA:228360
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Gait ataxia, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Truncal ataxia, Rigidity...	OMIM:618877
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Epicanthus, Hypospadias, Loss of ambulation, Frequent falls, Albuminuria, Upslante...	OMIM:214100
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Myoclonus, Dementia, Tremor, Frequent falls, Difficulty walking, Tongue fasciculations	OMIM:159950
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co...	OMIM:613496
Spermatogenic Failure 35	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe...	OMIM:618341
Flynn-Aird Syndrome	Kyphoscoliosis, Ataxia	OMIM:136300
Galloway-Mowat Syndrome 1	Spasticity, Spastic tetraplegia, Nephrotic syndrome, Epicanthus, Joint contracture of the hand, C...	OMIM:251300
Orofaciodigital Syndrome Xi	Downslanted palpebral fissures, Hypoplasia of the odontoid process, Kyphoscoliosis	OMIM:612913
Spinocerebellar Ataxia 8	Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia	OMIM:608768
Sandhoff Disease, Juvenile Form	Urinary incontinence, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait...	ORPHA:309162
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Cognitive impairment, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Myoclon...	OMIM:614487
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Inability to walk, Gait disturbance, Spastic paraparesis, Tremor, Di...	ORPHA:101077
Aapoaiv Amyloidosis	Back pain, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular scl...	ORPHA:439232
Hereditary Renal Hypouricemia	Back pain, Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physi...	ORPHA:94088
Spermatogenic Failure 72	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular...	OMIM:619867
Spermatogenic Failure 34	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:618153
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Chorea, Falls, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Choreoathetosis...	ORPHA:13
Spinocerebellar Ataxia 34	Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Limb ataxia, Ataxia, Intent...	OMIM:133190
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Oculomotor apraxia, Ataxia, Kyphoscoliosis, Dystonia	ORPHA:459033
Autosomal Dominant Cerebellar Ataxia	Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro...	ORPHA:99
Allan-Herndon-Dudley Syndrome	Spasticity, Ankle clonus, Abnormal pyramidal sign, Flexion contracture, Spastic tetraplegia, Limb...	ORPHA:59
Hypermanganesemia With Dystonia 2	Spasticity, Ankle clonus, Generalized dystonia, Tip-toe gait, Inability to walk, Parkinsonism, Li...	OMIM:617013
Developmental And Epileptic Encephalopathy 11	Hyperkinetic movements, Spastic tetraplegia	OMIM:613721
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral ptosis, Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Scoliosis, Dy...	ORPHA:330050
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Kyphoscoliosis, Distal sensory impairment, Steppage gait	OMIM:605588
Facial Onset Sensory And Motor Neuronopathy	Paresthesia, Fasciculations	ORPHA:85162
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Progressive spastic paraplegia, Urinary incontinence, Spasticity, Kyphosis, Ataxia, Waddling gait...	ORPHA:464282
Rhizomelic Chondrodysplasia Punctata, Type 1	Spasticity, Flexion contracture, Kyphoscoliosis, Upslanted palpebral fissure, Coronal cleft verte...	OMIM:215100
Ck Syndrome	Epicanthus, Almond-shaped palpebral fissure, Kyphoscoliosis, Upslanted palpebral fissure, Lumbar ...	ORPHA:251383
Diastrophic Dysplasia	Hip contracture, Cervical kyphosis, Kyphoscoliosis, Hypoplastic cervical vertebrae, Scoliosis, Lu...	OMIM:222600
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Myoclonus, Frequent falls, Scoliosis, Action myoclonus	OMIM:616540
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Gait disturbance, Kyphosis	ORPHA:85193
Free Sialic Acid Storage Disease	Spasticity, Abnormal pyramidal sign, Nephrotic syndrome, Oculomotor apraxia, Gait disturbance, At...	ORPHA:834
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Chorea, Spasticity, Inability to walk, Oculogyric crisis, Myoclonus, Scoliosis, Hyperkinetic move...	OMIM:614254
Pauci-Immune Glomerulonephritis	Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Glomerular sclero...	ORPHA:93126
Cerebral Creatine Deficiency Syndrome 2	Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H...	OMIM:612736
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Lipoatrophy, Microscopic hematuria	ORPHA:79087
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Tongue fasciculations, Kyphosis, Ataxia	OMIM:620007
Intellectual Developmental Disorder, X-Linked 104	Spasticity, Aggressive behavior, Ataxia, Tremor	OMIM:300983
Glycosylphosphatidylinositol Biosynthesis Defect 15	Gait ataxia, Spasticity, Inability to walk, Apraxia, Dysmetria, Tremor	OMIM:617810
Glutathionuria	Tremor, Action tremor, Dysdiadochokinesis	OMIM:231950
Spermatogenic Failure 65	Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m...	OMIM:619712
Renal Hypoplasia	Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec...	ORPHA:93101
Striatonigral Degeneration, Infantile, Mitochondrial	Chorea, Lingual dystonia, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Freq...	OMIM:500003
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Paraparesis, Gait disturbance, Incoordination, Hand tremor, Babinski sign, Dysmetri...	OMIM:302800
Adult-Onset Cervical Dystonia, Dyt23 Type	Writer's cramp, Torticollis, Myoclonus, Focal dystonia, Head tremor, Axial dystonia, Difficulty w...	ORPHA:420492
Porokeratosis	Abnormality of skin pigmentation, Squamous cell carcinoma of the skin	ORPHA:79358
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Kyphoscoliosis, Thoracolumbar kyphosis	OMIM:236660
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Spastic tetraparesis, Tremor, Aggressive behavior, Broad-based gait	OMIM:619470
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 46	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:619095
Spermatogenic Failure 33	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618152
Spermatogenic Failure 37	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618429
Spermatogenic Failure 18	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:617576
Spermatogenic Failure 27	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:617965
Epilepsy, Progressive Myoclonic, 8	Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Action myoclonus	OMIM:616230
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Social and occupational deterioration, Abnormal pyramidal sign, Akinesia, Parkinso...	ORPHA:240071
Maternal Uniparental Disomy Of Chromosome 9	Hamstring contractures, Kyphoscoliosis, Short neck, Abnormal vertebral morphology	ORPHA:96183
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Ataxia, Impaired pain sensation, Loss of ambulation, Scoliosis, Unsteady gait, Distal s...	OMIM:618124
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cognitive impairment, Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Dysto...	ORPHA:70594
Myoclonus-Dystonia Syndrome	Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Dystonia	ORPHA:36899
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Kyphoscoliosis, Tetraparesis, Dystonia	OMIM:618230
Isolated Permanent Neonatal Diabetes Mellitus	Lower-limb joint contracture, Bilateral ptosis, Ketonuria, Glycosuria, Moderate albuminuria, Abno...	ORPHA:99885
Dent Disease 2	Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal...	OMIM:300555
Autosomal Recessive Dopa-Responsive Dystonia	Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio...	ORPHA:101150
Leukodystrophy, Hypomyelinating, 17	Kyphoscoliosis, Flexion contracture, Inability to walk	OMIM:618006
Intellectual Developmental Disorder, X-Linked 19	Kyphoscoliosis, Scoliosis	OMIM:300844
Waisman Syndrome	Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to d...	OMIM:311510
Nephrotic Syndrome, Type 21	Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn...	OMIM:618594
Spastic Paraplegia 79B, Autosomal Recessive	Hoffmann sign, Impaired vibration sensation at ankles, Ankle clonus, Postural tremor, Ataxia, Bab...	OMIM:615491
Neuroectodermal Melanolysosomal Disease	Spasticity, Rigidity, Ataxia, Tremor, Hypertonia	ORPHA:33445
Spermatogenic Failure 56	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:619515
Machado-Joseph Disease	Spasticity, Urinary bladder sphincter dysfunction, Parkinsonism, Truncal ataxia, Rigidity, Abnorm...	OMIM:109150
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Gait ataxia, Spasticity, Shuffling gait, Dysdiadochokinesis, Resting tremor, Parkinsonism, Rigidi...	ORPHA:247234
Spinocerebellar Ataxia Type 18	Gait ataxia, Somatic sensory dysfunction, Titubation, Dysmetria, Head tremor	ORPHA:98771
Succinic Semialdehyde Dehydrogenase Deficiency	Increased level of gamma-aminobutyric acid in urine, Elevated urinary 4-hydroxybutyric acid, Atax...	OMIM:271980
4H Leukodystrophy	Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Upper ...	ORPHA:289494
Developmental And Epileptic Encephalopathy 6B	Chorea, Inability to walk, Myoclonus, Choreoathetosis, Ataxia, Scoliosis, Hyperkinetic movements,...	OMIM:619317
Joubert Syndrome 18	Renal cyst, Kyphoscoliosis, Camptodactyly, Horseshoe kidney	OMIM:614815
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Truncal ataxia, Dysmetria, Tremor, Dysdiadochokinesis	OMIM:610185
Warburg Micro Syndrome 1	Ptosis, Kyphoscoliosis, Spastic diplegia	OMIM:600118
Schwartz-Jampel Syndrome, Type 1	Wrist flexion contracture, Hip contracture, Joint contracture of the hand, Blepharophimosis, Lumb...	OMIM:255800
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Rigidity, Limb dystonia, Akine...	OMIM:616840
Neuroferritinopathy	Chorea, Blepharospasm, Cognitive impairment, Resting tremor, Frontal lobe dementia, Writer's cram...	ORPHA:157846
Spermatogenic Failure 43	Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Parkinson Disease 20, Early-Onset	Shuffling gait, Parkinsonism, Rigidity, Eyelid apraxia, Involuntary movements, Short stepped shuf...	OMIM:615530
Leukoencephalopathy With Ataxia	Gait ataxia, Limb ataxia, Action tremor	OMIM:615651
Myopathic Ehlers-Danlos Syndrome	Knee flexion contracture, Congenital finger flexion contractures, Foot joint contracture, Flexion...	ORPHA:536516
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormal pyramidal sign, Paresthesia, Abnormality of the cervical spine, Kyphosis, Ataxia, Dysmet...	ORPHA:48431
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Hemiparesis, Ataxia, Tremor, Intention tremor	OMIM:614307
Leukodystrophy, Hypomyelinating, 6	Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia	OMIM:612438
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Ankle clonus, Truncal ataxia, Progressive gait ataxia, Tortuosity of conjunctival vessels, Limb a...	ORPHA:284289
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Athetosis, Hypertonia	OMIM:617106
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Unsteady gait, Scoliosis, Ataxia	OMIM:300861
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Scoliosis, Abnormal renal physiology, Glomerular sclerosis	OMIM:223900
Sporadic Infantile Bilateral Striatal Necrosis	Gait ataxia, Chorea, Abnormal posturing, Resting tremor, Parkinsonism, Titubation, Gait disturban...	ORPHA:225147
Sialidosis Type 1	Aminoaciduria, Hernia, Kyphosis, Urinary excretion of sialylated oligosaccharides, Myoclonus, Gai...	ORPHA:812
Sandhoff Disease	Kyphosis, Ataxia	ORPHA:796
Al Amyloidosis	Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Albuminuria, ...	ORPHA:85443
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Upper motor neuron dysfunction, Kyphoscoliosis, Limb joint c...	OMIM:612079
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Chorea, Anxiety, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Cogwheel rigidity, Panic attack...	OMIM:619725
Pelizaeus-Merzbacher Disease	Abnormal pyramidal sign, Cognitive impairment, Inability to walk, Writer's cramp, Choreoathetosis...	OMIM:312080
Episodic Ataxia Type 1	Tip-toe gait, Poor coordination, Clumsiness, Choreoathetosis, Kyphoscoliosis, Scoliosis, Hypertonia	ORPHA:37612
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome	OMIM:614652
Spermatogenic Failure, X-Linked, 3	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:301059
Senior-Loken Syndrome 8	Stage 5 chronic kidney disease, Nephronophthisis, Global glomerulosclerosis, Glomerular subepithe...	OMIM:616307
Aicardi-Goutieres Syndrome 6	Rigidity, Loss of ambulation, Tremor, Irritability, Dystonia	OMIM:615010
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Gait disturbance, Scoliosis, Ataxia	ORPHA:85317
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Ataxia, Postural tremor	OMIM:300619
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Nephrolithiasis, Obstructive azoospermia	OMIM:301060
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Scoliosis, Kyphosis	OMIM:618323
Glut1 Deficiency Syndrome 1	Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi...	OMIM:606777
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Denys-Drash Syndrome	Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Epicanthus, ...	OMIM:194080
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria	OMIM:261100
Proximal Myopathy With Extrapyramidal Signs	Chorea, Resting tremor, Ataxia, Progressive extrapyramidal movement disorder, Difficulty walking,...	ORPHA:401768
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Flexion contracture, Delayed vertebral ossification, Gait disturbance, Butterfly verte...	OMIM:613330
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Babinski sign, Spastic paraplegia, Tremor, Difficulty walking, Broad-based gait	ORPHA:477673
Classic Glucose Transporter Type 1 Deficiency Syndrome	Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ...	ORPHA:71277
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Scoliosis, Kyphosis	ORPHA:3454
Warburg Micro Syndrome 3	Ankle clonus, Flexion contracture, Spastic tetraplegia, Inability to walk, Blepharophimosis, Kyph...	OMIM:614222
Amyotrophic Lateral Sclerosis 2, Juvenile	Babinski sign, Difficulty walking, Hypertonia, Arm dystonia, Spasticity, Spastic diplegia, Spasti...	OMIM:205100
Developmental And Epileptic Encephalopathy 92	Spasticity, Inability to walk, Myoclonus, Ataxia, Difficulty walking, Dystonia	OMIM:617829
Spermatogenic Failure 54	Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,...	OMIM:619379
Lopes-Maciel-Rodan Syndrome	Spasticity, Ankle clonus, Abnormal pyramidal sign, Kyphosis, Tremor, Scoliosis, Hypertonia, Unste...	OMIM:617435
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Parkinsonism	OMIM:162350
Oligomeganephronia	Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr...	ORPHA:2260
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Impaired vibration sensation in the lower limbs, Gait ataxia, Spasticity, Abnormal pyramidal sign...	ORPHA:352641
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Abnormal pyramidal sign, Ataxia, Myoclonus	OMIM:612016
Generalized Epilepsy With Febrile Seizures-Plus	Poor fine motor coordination, Cognitive impairment, Incoordination, Ataxia, Tremor, Anxiety, Brad...	ORPHA:36387
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Classic Phenylketonuria	Self-injurious behavior, Motor deterioration, Hemiplegia, Paraplegia, Tremor, Hypertonia, Mental ...	ORPHA:79254
Glycogen Storage Disease X	Renal insufficiency, Myoglobinuria	OMIM:261670
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Gait disturbance, Hypertonia, Hyperkinetic movements, Methylmalonic aciduria, Homocystinuria	OMIM:236270
Arthrogryposis Multiplex Congenita 5	Flexion contracture, Akinesia, Elbow flexion contracture, Hand tremor, Medullary nephrocalcinosis...	OMIM:618947
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Kyphoscoliosis, Atrophic scars, Hernia	ORPHA:300179
King-Denborough Syndrome	Downslanted palpebral fissures, Bilateral ptosis, Thoracic kyphosis, Ptosis, Kyphoscoliosis, Shor...	OMIM:619542
Spermatogenic Failure 58	Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog...	OMIM:619585
Systemic Sclerosis	Flexion contracture, Acute kidney injury, Abnormality of the kidney, Glomerulonephritis, Albuminu...	ORPHA:90291
Spermatogenic Failure 40	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell...	OMIM:618664
Spermatogenic Failure 76	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:620084
Multiple System Atrophy	Gait ataxia, Abnormal pyramidal sign, Postural tremor, Resting tremor, Parkinsonism, Rigidity, Ax...	ORPHA:102
Rahman Syndrome	Kyphoscoliosis, Camptodactyly, Telecanthus, Hypertonia	OMIM:617537
Sialidosis Type 2	Flexion contracture, Kyphosis, Ataxia, Inguinal hernia, Nephropathy, Tremor, Umbilical hernia	ORPHA:87876
Severe Neurodegenerative Syndrome With Lipodystrophy	Gait ataxia, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Limb dystonia, Myoclonus,...	ORPHA:363400
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Alpha-aminoadipic aciduria, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, G...	OMIM:620089
Autosomal Recessive Spastic Paraplegia Type 75	Spasticity, Abnormal pyramidal sign, Titubation, Spastic paraplegia, Babinski sign, Dysmetria, Im...	ORPHA:459056
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Gait ataxia, Chorea, Spasticity, Abnormal pyramidal sign, Inability to walk, Limb hypertonia, Kyp...	ORPHA:500180
Mitochondrial Membrane Protein-Associated Neurodegeneration	Spasticity, Shuffling gait, Parkinsonism, Rigidity, Hand tremor, Gait disturbance, Babinski sign,...	ORPHA:289560
Cdkl5-Deficiency Disorder	Kyphosis, Gait disturbance, Impaired pain sensation, Scoliosis, Difficulty walking	ORPHA:505652
Emanuel Syndrome	Sacral dimple, Hooded eyelid, Upslanted palpebral fissure, Multiple joint contractures, Hypogonad...	ORPHA:96170
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho...	ORPHA:449395
Peroxisome Biogenesis Disorder 5B	Oculomotor apraxia, Ataxia, Dysmetria, Tremor, Unsteady gait	OMIM:614867
Atypical Rett Syndrome	Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, Involuntary movements, Apraxia, Gait ...	ORPHA:3095
Glycogen Storage Disease Ia	Enlarged kidney, Decreased glomerular filtration rate, Xanthelasma, Proteinuria, Focal segmental ...	OMIM:232200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Hemiparesis, Nephropathy, Proteinuria, Glomerular sclerosis	ORPHA:247691
Spermatogenic Failure 42	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf...	OMIM:618745
Spinocerebellar Ataxia Type 10	Gait ataxia, Aggressive behavior, Gait imbalance, Dysdiadochokinesis, Apathy, Babinski sign, Dysm...	ORPHA:98761
Oculocutaneous Albinism Type 1B	Hypopigmentation of the skin, Melanocytic nevus, Squamous cell carcinoma of the skin, Albinism, I...	ORPHA:79434
Spermatogenic Failure 39	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe...	OMIM:618643
Amyotrophic Lateral Sclerosis 5, Juvenile	Urinary incontinence, Spasticity, Abnormal pyramidal sign, Babinski sign, Fasciculations	OMIM:602099
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Gait disturbance, Kyphosis	ORPHA:1875
Perry Syndrome	Frontotemporal dementia, Suicidal ideation, Parkinsonism, Rigidity, Akinesia, Apathy, Short stepp...	OMIM:168605
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Myoclonus, Increased urinary O-linked sialopept...	OMIM:256550
Cryoglobulinemia, Familial Mixed	Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease	OMIM:123550
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Distal sensory impairment, Claw hand deformity, Steppage gait, Fasciculations	OMIM:606595
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ...	OMIM:614298
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Nephritis, Nephropathy, Decreased glomerular filtration rate, Renal insuff...	OMIM:162000
Glycogen Storage Disease Xi	Rigidity, Renal insufficiency, Myoglobinuria	OMIM:612933
Charcot-Marie-Tooth Disease, Type 4B2	Kyphoscoliosis, Distal sensory impairment, Difficulty walking, Steppage gait	OMIM:604563
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Myoclonus, Choreoathetosis, Hyperkinetic movements, Dystonia	OMIM:618497
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Urinary incontinence, Spasticity, Myoclonus, Ataxia, Dystonia	OMIM:620094
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Downslanted palpebral fissures, Epicanthus, Synophrys, Dorsocervical fat pad, Spastic paraparesis...	ORPHA:391408
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Spina bifi...	OMIM:618060
Multicentric Carpotarsal Osteolysis Syndrome	Inability to walk, Stage 5 chronic kidney disease, Congenital diaphragmatic hernia, Proteinuria, ...	OMIM:166300
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Epilepsy, Progressive Myoclonic, 10	Spasticity, Cognitive impairment, Spastic ataxia, Spastic tetraplegia, Myoclonus, Dementia, Ataxi...	OMIM:616640
Multiple System Atrophy, Cerebellar Type	Gait ataxia, Abnormal pyramidal sign, Postural tremor, Resting tremor, Parkinsonism, Rigidity, Ap...	ORPHA:227510
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Ataxia, Babinski sign, Dysmetria, Tremor, Loss of ambulation, Dystonia	OMIM:607694
Microphthalmia, Syndromic 13	Ptosis, Kyphoscoliosis	OMIM:300915
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Proteinuria, Renal insufficiency	ORPHA:2668
Mohr-Tranebjaerg Syndrome	Spasticity, Increased susceptibility to fractures, Abnormal posturing, Tremor	OMIM:304700
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse eyebrow, Flexion contracture, Epicanthus, Atrophic scars, Lipodystrophy, Kyphoscoliosis, S...	ORPHA:75496
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Kyphoscoliosis	OMIM:600384
Spermatogenic Failure 47	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:619102
Hypermanganesemia With Dystonia 1	Poor fine motor coordination, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio...	OMIM:613280
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Spasticity, Gait disturbance, Scoliosis, Kyphosis	ORPHA:2429
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis	OMIM:117850
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Fasciculations, Inability to walk, Thoracic kyphosis, Elbow flexion contracture, Thoracic scolios...	ORPHA:206546
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor...	OMIM:277300
Melas	Proximal tubulopathy, Hemiparesis, Myoclonus, Gait disturbance, Ataxia, Nephropathy, Abnormal cen...	ORPHA:550
Hereditary Amyloidosis With Primary Renal Involvement	Renal tubular atrophy, Tubulointerstitial nephritis, Hypogonadism, Nephrotic syndrome, Renal inte...	ORPHA:85450
Dystonia 15, Myoclonic	Writer's cramp, Myoclonus, Dystonia	OMIM:607488
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Impaired renal concentrating ability, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Reduc...	OMIM:602522
Leukodystrophy, Hypomyelinating, 3	Abnormal pyramidal sign, Appendicular spasticity, Spastic paraparesis, Kyphoscoliosis, Joint cont...	OMIM:260600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
X-Linked Dominant Chondrodysplasia Punctata	Downslanted palpebral fissures, Sparse eyebrow, Flexion contracture, Neuropathic spinal arthropat...	ORPHA:35173
Fanconi Renotubular Syndrome 3	Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria	OMIM:615605
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Enamel hypoplasia, Hyperlordosis, Irregular vertebral endplates, Hip contracture, Inguinal hernia...	OMIM:618363
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g...	OMIM:613388
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Tremor, Fasciculations	OMIM:313200
Bethlem Myopathy 2	Scoliosis, Kyphosis	OMIM:616471
Multiple System Atrophy, Parkinsonian Type	Gait ataxia, Abnormal pyramidal sign, Postural tremor, Resting tremor, Parkinsonism, Rigidity, Ap...	ORPHA:98933
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Gait ataxia, Thoracic kyphosis, Myoclonus, Impaired tactile sensation, Ataxia, Tremor, Hypertonia...	OMIM:619092
Thyrocerebroretinal Syndrome	Ataxia, Myoclonus, Slurred speech, Nephritis	OMIM:274240
Glycine Encephalopathy	Myoclonus, Hyperglycinuria	OMIM:605899
Mucopolysaccharidosis, Type Iiic	Ovoid thoracolumbar vertebrae, Hernia, Synophrys, Kyphoscoliosis, Beaking of vertebral bodies, He...	OMIM:252930
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, T...	OMIM:128100
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Waddling gait	OMIM:618392
Creutzfeldt-Jakob Disease	Gait ataxia, Myoclonus, Hemiparesis, Extrapyramidal muscular rigidity	OMIM:123400
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Myoclonus, Gait disturbance, Dementia, Lo...	OMIM:168601
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome	OMIM:249660
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal duplication, Flexion contracture, Aplasia of the bladder, Renal dysplasia, Atrophic scars, ...	ORPHA:158684
Juvenile Amyotrophic Lateral Sclerosis	Inability to walk, Axial dystonia, Difficulty walking, Hypertonia, Arm dystonia, Lower-limb joint...	ORPHA:300605
Ataxia-Telangiectasia-Like Disorder	Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Ataxia, Dysmetria, Hyperg...	ORPHA:251347
Mohr-Tranebjaerg Syndrome	Ankle clonus, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Apraxia, Dementia, Babi...	ORPHA:52368
Microtriplication 11Q24.1	Upslanted palpebral fissure, Synophrys, Long eyelashes, Short neck, Scoliosis, Hyperkinetic movem...	ORPHA:289522
Cutaneous Neuroendocrine Carcinoma	Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo...	ORPHA:79140
Dysspondyloenchondromatosis	Vertebral segmentation defect, Anisospondyly, Kyphoscoliosis, Scoliosis, Platyspondyly	ORPHA:85198
Infantile-Onset X-Linked Spinal Muscular Atrophy	Knee flexion contracture, Hip contracture, Elbow flexion contracture, Kyphoscoliosis, Interphalan...	ORPHA:1145
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, Babinski...	ORPHA:225154
Spinocerebellar Ataxia 27A	Gait ataxia, Postural tremor, Limb ataxia, Abnormal vestibulo-ocular reflex, Impaired vibratory s...	OMIM:193003
Neuronopathy, Distal Hereditary Motor, Type Viii	Hyperlordosis, Scoliosis, Kyphosis	OMIM:600175
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Kyphoscoliosis, Distal sensory impairment, Steppage gait	OMIM:118220
Autoinflammatory-Pancytopenia Syndrome	Lipodystrophy, Proteinuria, Membranoproliferative glomerulonephritis	OMIM:619858
Male Infertility Due To Acephalic Spermatozoa	Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep...	ORPHA:529970
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Downslanted palpebral fissures, Vertebral segmentation defect, Camptod...	OMIM:611209
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Enuresis nocturna, Long eyelashes, Long palpebral fissure, Kyphoscolio...	OMIM:614856
Intellectual Developmental Disorder, Autosomal Recessive 39	Synophrys, Kyphoscoliosis	OMIM:615541
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Blepharophimosis, E...	OMIM:610758
Spinocerebellar Ataxia 10	Gait ataxia, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Urinary urgency, ...	OMIM:603516
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Downslanted palpebral fissures, Irregular vertebral endplates, Joint con...	OMIM:612350
Metatropic Dysplasia	Flexion contracture, Relatively short spine, Kyphosis, Caudal appendage, Hypoplasia of the odonto...	OMIM:156530
Charcot-Marie-Tooth Disease Type 1F	Gait ataxia, Urinary incontinence, Somatic sensory dysfunction, Paresthesia, Inability to walk, L...	ORPHA:101085
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis, Spastic tetraplegia	OMIM:300886
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Spasticity, Myoclonus	OMIM:545000
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Kyphoscoliosis, Flexion contracture	OMIM:607855
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis	OMIM:618913
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Hyperlordosis, Vertebral fusion, Tip-toe gait, Kyphosis, Exercise-induced myoglobinuria, Achilles...	OMIM:607155
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Gait ataxia, Chorea, Abnormal pyramidal sign, Inability to walk, Rigidity, Paraparesis, Babinski ...	OMIM:607483
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Renal dysplasia, Nephrotic syndrome, Unilateral renal dysplasia, Hematuria, Distal renal tubular ...	OMIM:146255
Alexander Disease Type Ii	Spasticity, Urinary bladder sphincter dysfunction, Rigidity, Palatal tremor, Ataxia, Babinski sig...	ORPHA:363722
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb hypertonia, Fr...	ORPHA:254343
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Abnormal pyramidal sign, Gait imbalance, Postural tremor, Oculomotor...	ORPHA:64753
Alport Syndrome 2, Autosomal Recessive	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem...	OMIM:203780
Congenital Disorder Of Glycosylation, Type In	Spasticity, Short neck, Ataxia, Myoclonus	OMIM:612015
Glycogen Storage Disease Ib	Enlarged kidney, Decreased glomerular filtration rate, Xanthelasma, Proteinuria, Focal segmental ...	OMIM:232220
Spermatogenic Failure 7	Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm	OMIM:612997
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Neurodevelopmental Disorder With Involuntary Movements	Chorea, Spasticity, Involuntary movements, Hyperkinetic movements, Athetosis, Dystonia	OMIM:617493
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Abnormal pyramidal sign, Glycosuria, Hyperphosphaturia, Gait disturbance, Ataxia, ...	ORPHA:436271
Ataxia With Vitamin E Deficiency	Dysdiadochokinesis, Clumsiness, Gait disturbance, Ataxia, Short term memory impairment, Positive ...	OMIM:277460
Spermatogenic Failure 10	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 11	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:615081
Spinocerebellar Ataxia Type 42	Gait ataxia, Urinary incontinence, Impaired vibration sensation at ankles, Impotence, Spastic gai...	ORPHA:458803
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Spasticity, Spastic diplegia, Choreoathetosis, Scoliosis, Proteinuria, Renal insu...	ORPHA:2715
Primary Progressive Freezing Gait	Gait imbalance, Shuffling gait, Postural tremor, Rigidity, Dementia, Babinski sign, Frequent fall...	ORPHA:75567
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Urinary incontinence, Rigidity, Myoclonus, Gait disturbance, Babinski sign, Dystonia	OMIM:600795
Musculocontractural Ehlers-Danlos Syndrome	Downslanted palpebral fissures, Abnormality of the cervical spine, Atlantoaxial dislocation, Atro...	ORPHA:2953
Charcot-Marie-Tooth Disease Type 4B2	Poor fine motor coordination, Paresthesia, Tip-toe gait, Inability to walk, Ptosis, Kyphoscoliosi...	ORPHA:99956
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Kyphoscoliosis, Distal sensory impairment	OMIM:607831
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Ankle clonus, Inability to walk, Kyphosis, Babinski sign, Spastic p...	OMIM:609541
Spermatogenic Failure 25	Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo...	OMIM:617960
Juvenile Huntington Disease	Gait ataxia, Chorea, Rigidity, Myoclonus, Ataxia, Progressive cerebellar ataxia, Dystonia, Broad-...	ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 31	Choreoathetosis, Ataxia, Ptosis, Tremor, Dystonia, Lumbar kyphoscoliosis	OMIM:619422
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Flexion contracture, Kyphosis, Flexion contracture of finger, Kyphoscoliosis, Scoliosis, Arthrogr...	OMIM:618484
Progressive Myoclonic Epilepsy With Dystonia	Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, He...	ORPHA:352596
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:618670
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus, Paresthesia	OMIM:102300
Arthrogryposis, Distal, Type 3	Camptodactyly of finger, Knee flexion contracture, Distal arthrogryposis, Thoracolumbar scoliosis...	OMIM:114300
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole...	OMIM:134600
Dystonia, Juvenile-Onset	Pseudobulbar paralysis, Oculogyric crisis, Leg dystonia, Loss of ambulation, Kyphoscoliosis, Gene...	OMIM:607371
Spinocerebellar Ataxia 1	Chorea, Spasticity, Paresthesia, Urinary bladder sphincter dysfunction, Dysdiadochokinesis, Trunc...	OMIM:164400
Renal Hypoplasia, Bilateral	Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D...	ORPHA:97362
Lcat Deficiency	Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi...	ORPHA:650
Winchester Syndrome	Kyphosis	OMIM:277950
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Moderate albuminuria, Scoliosis, Platyspondyly, Hydronephrosis	OMIM:619269
Infantile Spasms Syndrome	Myoclonus	ORPHA:3451
Richieri Costa-Da Silva Syndrome	Falls, Inability to walk, Blepharophimosis, Vertebral wedging, Kyphoscoliosis, Short neck, Beakin...	ORPHA:3101
Ddost-Cdg	Nephrotic range proteinuria, Lipodystrophy, Tremor, Oromotor apraxia	ORPHA:300536
Mitochondrial Complex I Deficiency, Nuclear Type 12	Gait imbalance, Myoclonus, Choreoathetosis, Ataxia, Frequent falls, Unsteady gait	OMIM:301020
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Flexion contracture, Thoracic kyphosis, Hypoplasia of the odontoid process, Ataxia, Babinski sign...	OMIM:300232
48,Xxyy Syndrome	Epicanthus, Blepharophimosis, Infertility, Azoospermia, Hypoplasia of penis, Ataxia, Inguinal her...	ORPHA:10
Arthrogryposis, Distal, Type 2A	Knee flexion contracture, Wrist flexion contracture, Hip contracture, Hernia, Joint contracture o...	OMIM:193700
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Inability to walk, Kyphosis, Synophrys, Myoclonus, Unilateral ptosis, Camptodacty...	ORPHA:3063
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Rigidity, Short stepped shuffling gait, Dementia, Tremor, Dystonia,...	OMIM:168600
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Myoclonus, Hypertonia, Hydronephrosis	OMIM:618240
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus	OMIM:217200
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
Spontaneous Periodic Hypothermia	Tremor, Gait disturbance, Ataxia	ORPHA:29822
Partial Chromosome Y Deletion	Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia	ORPHA:1646
Spermatogenic Failure 62	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Hypocalcemia, Autosomal Dominant 1	Paresthesia, Decreased glomerular filtration rate, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria	OMIM:601198
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Limb hypertonia, Involuntary movements, Rigidity, Myoclonus, Ataxia, Tremor, Difficul...	ORPHA:442835
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Abnormality of extrapyramidal motor function, Myoclonus, Ataxia	OMIM:204300
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Gait ataxia, Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor, Steppage gait, Hypertonia, Dist...	OMIM:616505
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619878
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Flexion contracture, Kyphosis, Nephrotic syndrome, Premature ovarian insuff...	OMIM:212065
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Downslanted palpebral fissures, Abnormal sacral segmentation, Spastic diplegia, Epicanthus, Synop...	ORPHA:480907
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate...	OMIM:618061
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Renal insufficiency, Proteinuria	OMIM:134610
Spastic Paraplegia 9B, Autosomal Recessive	Spasticity, Impaired distal vibration sensation, Pseudobulbar paralysis, Gait disturbance, Babins...	OMIM:616586
Spermatogenic Failure 78	Microcephalic sperm head, Male infertility, Tapered sperm head	OMIM:620170
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Elbow flexion contracture, Abnormal vertebral morphology, Kyphoscoliosis, Scoliosis, Platyspondyl...	ORPHA:93359
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Spasticity, Kyphosis, Epicanthus, Renal agenesis, Hypospadias, Kyphoscoliosis, Scoliosis, Hemiver...	OMIM:301040
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Kyphoscoliosis, Micropenis	OMIM:610756
Spinocerebellar Ataxia Type 13	Gait ataxia, Urinary incontinence, Impaired distal vibration sensation, Urinary urgency, Titubati...	ORPHA:98768
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Downslanted palpebral fissures, Spasticity, Spastic ataxia, Spastic tetraplegia, Spastic diplegia...	ORPHA:300570
Deafness-Infertility Syndrome	Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit...	OMIM:611102
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619528
Tyrosinemia, Type I	Enlarged kidney, Glomerular sclerosis, Periodic paralysis, Nephrocalcinosis, Renal insufficiency,...	OMIM:276700
Developmental And Epileptic Encephalopathy 16	Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia	OMIM:615338
Adult-Onset Autosomal Dominant Leukodystrophy	Flexion contracture, Impotence, Upper motor neuron dysfunction, Babinski sign, Action tremor, Hyp...	ORPHA:99027
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Kyphoscoliosis, Distal sensory impairment, Steppage gait	OMIM:118200
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Dysmetria, Intention tremor, Ataxia, Speech apraxia	OMIM:619352
Aa Amyloidosis	Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,...	ORPHA:85445
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Microphallus, Gait disturbance, Tremor, Hyperkinetic movements	OMIM:300957
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Squamous cell carcinoma of the skin, Iris transillumination defect,...	ORPHA:79432
Spermatogenic Failure 63	Oligospermia, Male infertility, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure 1	Oligospermia, Cryptozoospermia, Male infertility	OMIM:258150
Coffin-Siris Syndrome 6	Downslanted palpebral fissures, Kyphoscoliosis, Narrow palpebral fissure, Epicanthus	OMIM:617808
Early-Onset Lafora Body Disease	Spastic tetraparesis, Myoclonus, Ataxia, Mental deterioration	ORPHA:324290
Cerebrooculofacioskeletal Syndrome 1	Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Blepharophimosis, E...	OMIM:214150
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements	ORPHA:397933
Neuronopathy, Distal Hereditary Motor, Type Iid	Difficulty walking, Fasciculations	OMIM:615575
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria	ORPHA:54057
Schindler Disease, Type I	Spasticity, Increased urinary O-linked sialopeptides, Myoclonus	OMIM:609241
Distal 16P11.2 Microdeletion Syndrome	Vesicoureteral reflux, Kyphosis, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic ...	ORPHA:261222
Spinocerebellar Ataxia 36	Gait ataxia, Truncal ataxia, Limb ataxia, Incoordination, Ataxia, Babinski sign, Ptosis, Hyperton...	OMIM:614153
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Biconcave vertebral bodies, Methioninuria, Inguinal hernia, Kyphoscoliosis, Scoliosis, Homocystin...	OMIM:236200
Chst3-Related Skeletal Dysplasia	Sparse eyebrow, Intervertebral space narrowing, Flexion contracture, Kyphoscoliosis, Scoliosis, H...	ORPHA:263463
Preeclampsia	Acute kidney injury, Abnormality of the kidney, Proteinuria, Chronic kidney disease	ORPHA:275555
Chondrodysplasia Punctata 2, X-Linked Dominant	Downslanted palpebral fissures, Sparse eyebrow, Kyphoscoliosis, Short neck, Scoliosis, Punctate v...	OMIM:302960
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Dysdiadochokinesis, Spastic dysarthria, Oculomotor apraxia, Myoclonus, Ataxia, Spasti...	ORPHA:313772
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria	ORPHA:375
Young-Onset Parkinson Disease	Spasticity, Cognitive impairment, Gait imbalance, Frontal lobe dementia, Rigidity, Apathy, Dement...	ORPHA:2828
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia	OMIM:619108
Papillorenal Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Orbital cyst, Stage 5 chronic kidney disease...	OMIM:120330
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Chorea, Spasticity, Blepharospasm, Rigidity, Clumsiness, Myoclonus, Gait disturbance, Ataxia, Bab...	OMIM:617282
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Developmental And Epileptic Encephalopathy 23	Synophrys, Myoclonus, Long eyelashes, Double eyebrow, Thick eyebrow, Telecanthus	OMIM:615859
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Alport Syndrome 3, Autosomal Dominant	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem...	OMIM:104200
Spinocerebellar Ataxia Type 1	Chorea, Gait imbalance, Dysdiadochokinesis, Postural tremor, Gait disturbance, Impaired proprioce...	ORPHA:98755
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Upper limb spasticity, Gait disturbance, Tremor, Hyperkinetic movements, Micropenis	ORPHA:457240
Aceruloplasminemia	Gait ataxia, Chorea, Blepharospasm, Cognitive impairment, Akinesia, Parkinsonism, Rigidity, Torti...	ORPHA:48818
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Decreased glomerular filtration rate	OMIM:242530
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Gait disturbance, Nephropathy, Proteinuria, Telecanthus	ORPHA:2774
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Classic Galactosemia	Decreased fertility in females, Primary amenorrhea, Gait imbalance, Postural tremor, Secondary am...	ORPHA:79239
Caribbean Parkinsonism	Frontal lobe dementia, Parkinsonism, Rigidity, Myoclonus, Apraxia, Progressive gait ataxia, Demen...	ORPHA:97355
Migraine, Familial Hemiplegic, 2	Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor	OMIM:602481
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia	OMIM:618110
Continuous Spikes And Waves During Sleep	Hyperkinetic movements, Clumsiness, Dystonia, Speech apraxia	ORPHA:725
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Spa...	ORPHA:391428
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Joint contracture of the hand, Kyphoscoliosis, Decreased cervical spine ...	OMIM:208230
Persistent Mullerian Duct Syndrome, Types I And Ii	Inguinal hernia, Male infertility	OMIM:261550
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Spastic diplegia, Myoclonus, Ataxia, Babinski sign, Dystonia	OMIM:619065
Oculocutaneous Albinism Type 1A	Hypopigmentation of the skin, Squamous cell carcinoma of the skin, Ocular albinism, Albinism, Iri...	ORPHA:79431
Myh9-Related Disease	Nephritis, Nephropathy, Menorrhagia, Proteinuria, Renal insufficiency	ORPHA:182050
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Tubulointerstitial nephritis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Hematur...	OMIM:616901
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Myoglobinuria, Ataxia, Tremor	ORPHA:713
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Gait ataxia, Spasticity, Oculomotor apraxia, Dysmetria, Tremor, Difficulty walking	ORPHA:529665
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Synophrys, Kyphoscoliosis, Scoliosis	ORPHA:391307
Spermatogenic Failure 70	Oligospermia, Reduced sperm motility, Azoospermia, Male infertility	OMIM:619828
Glycogen Storage Disease V	Myoglobinuria, Dark urine	OMIM:232600
Mitochondrial Complex I Deficiency, Nuclear Type 19	Inability to walk, Rigidity, Myoclonus, Gait disturbance, Loss of ambulation, Scoliosis, Athetosis	OMIM:618241
Spondyloenchondrodysplasia With Immune Dysregulation	Spasticity, Irregular vertebral endplates, Increased intervertebral space, Spastic diplegia, Prog...	OMIM:607944
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Gait imbalance, Nephrotic syndrome, Gait disturbance, Decreased glo...	ORPHA:488627
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria...	OMIM:612925
Developmental And Epileptic Encephalopathy 40	Spastic tetraparesis, Spasticity, Choreoathetosis, Myoclonus	OMIM:617065
Gardner Syndrome	Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea...	ORPHA:79665
Spermatogenic Failure 5	Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head	OMIM:243060
Mevalonic Aciduria	Downslanted palpebral fissures, Elevated urine mevalonic acid level, Ataxia, Kyphoscoliosis, Prog...	OMIM:610377
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Gait disturbance, Scoliosis, Hemiplegia	ORPHA:2181
Developmental And Epileptic Encephalopathy 27	Chorea, Spasticity, Dystonia, Myoclonus	OMIM:616139
Oculocutaneous Albinism	Hypopigmentation of the skin, Squamous cell carcinoma of the skin, Generalized hypopigmentation o...	ORPHA:55
Spermatogenic Failure 44	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:619044
Spermatogenic Failure 16	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617187
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Myoclonus, Membranoproliferative glomerulonephritis, Pain insensitivity, Macrosc...	ORPHA:251004
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Flexion contracture, Ataxia, Myoclonus	OMIM:256730
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Flexion contracture, Truncal ataxia, Myoclonus, Ataxia, Babinski sign, Ptosis, Dystonia	OMIM:252011
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Choreoathetosis, Gait disturbance, Positive Romberg sign, Tremor, St...	ORPHA:206594
Combined Oxidative Phosphorylation Deficiency 54	Epicanthus, Hemiparesis, Hypoesthesia, Tremor, Hypergonadotropic hypogonadism, Hypertonia, Primar...	OMIM:619737
Glycogen Storage Disease Ic	Hematuria, Decreased glomerular filtration rate, Proteinuria, Xanthelasma, Renal insufficiency, F...	OMIM:232240
Monosomy 18P	Epicanthus, Ptosis, Kyphoscoliosis, Short neck, Generalized dystonia	ORPHA:1598
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Truncal ataxia, Hyperphosphaturia, Ataxia, Ptosis, Proteinuria, Renal ...	OMIM:220110
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ...	ORPHA:228302
Alagille Syndrome 2	Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria	OMIM:610205
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia	OMIM:619145
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Ataxia, Erratic myoclonus, Spastic tetraplegia, Myoclonus	OMIM:619971
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor, ...	OMIM:614381
Joint Laxity, Short Stature, And Myopia	Inguinal hernia, Kyphoscoliosis, Cervical kyphosis, Umbilical hernia	OMIM:617662
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Horner syndrome, Abnorma...	OMIM:256700
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Spasticity, Abnormal pyramidal sign, Opisthotonus, Abnormality of ex...	ORPHA:445038
3-Methylglutaconic Aciduria, Type Viib	Spasticity, 3-Methylglutaconic aciduria, Flexion contracture, Myoclonus, Choreoathetosis, Ataxia,...	OMIM:616271
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Inguina...	OMIM:614376
Congenital Arthrogryposis With Anterior Horn Cell Disease	Kyphosis, Inability to walk, Short neck, Scoliosis, Difficulty walking	OMIM:611890
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia	OMIM:619831
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Mucopolysacchariduria, Nephrotic syndrome	OMIM:215250
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal tubular atrophy, Sparse eyebrow, Nephrotic syndrome, Decreased glomerular filtration rate, ...	OMIM:614748
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Myoclonus, Hypertonia, Limb tremor	OMIM:300699
Hajdu-Cheney Syndrome	Downslanted palpebral fissures, Biconcave vertebral bodies, Epicanthus, Synophrys, Polycystic kid...	OMIM:102500
Pontocerebellar Hypoplasia Type 4	Myoclonus, Arthrogryposis multiplex congenita, Hypertonia	ORPHA:166063
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Dystonia	ORPHA:139406
Frontotemporal Dementia With Motor Neuron Disease	Fasciculations, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor function, Paraparesis,...	ORPHA:275872
Developmental And Epileptic Encephalopathy 1	Erratic myoclonus, Abnormal pyramidal sign, Choreoathetosis, Spastic tetraparesis, Hypertonia, Dy...	OMIM:308350
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology	OMIM:619696
Pure Mitochondrial Myopathy	Bilateral ptosis, Lumbar hyperlordosis, Loss of ambulation, Frequent falls, Scoliosis, Recurrent ...	ORPHA:254854
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria	OMIM:612924
Distal Renal Tubular Acidosis	Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Paralys...	ORPHA:18
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Hypocomplementemic Urticarial Vasculitis	Conjunctivitis, Glomerulopathy, Cerebral palsy, Hemiplegia/hemiparesis, Hematuria, Ataxia, Protei...	ORPHA:36412
Pontocerebellar Hypoplasia, Type 1E	Knee flexion contracture, Myoclonus, Elbow flexion contracture	OMIM:619303
Huntington Disease	Poor fine motor coordination, Chorea, Gait imbalance, Inability to walk, Involuntary movements, R...	ORPHA:399
Leigh Syndrome	Multiple joint contractures, Choreoathetosis, Upper motor neuron dysfunction, Lacticaciduria, 3-M...	ORPHA:506
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Inability to walk, Clumsiness, Paraparesis, Myoclonus, Ataxia, Ptosis, Lower limb spa...	OMIM:617854
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Impaired vibration sensation in the lower limbs, Gait ataxia, Kyphosis, Gait disturbance, Ataxia,...	ORPHA:88628
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Renal insufficiency, Myoglobinuria	ORPHA:2364
Nail-Patella Syndrome	Flexion contracture, Elbow flexion contracture, Acroparesthesia, Lumbar hyperlordosis, Stage 5 ch...	ORPHA:2614
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As...	ORPHA:247806
Split Cord Malformation	Urinary incontinence, Renal duplication, Back pain, Hyperlordosis, Detrusor sphincter dyssynergia...	ORPHA:573278
Phosphoserine Aminotransferase Deficiency	Myoclonus, Hypertonia	OMIM:610992
Dent Disease 1	Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly...	OMIM:300009
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria, Ar...	OMIM:613404
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria	OMIM:612926
Sneddon Syndrome	Impaired distal tactile sensation, Tremor, Hemiplegia, Mental deterioration	OMIM:182410
Charcot-Marie-Tooth Disease, Type 4A	Kyphoscoliosis, Inability to walk by childhood/adolescence, Distal sensory impairment	OMIM:214400
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus	OMIM:604827
Autosomal Dominant Spastic Paraplegia Type 9A	Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, Falls, Spastic gait, Sp...	ORPHA:447753
Alpers-Huttenlocher Syndrome	Spasticity, Progressive spasticity, Paraparesis, Choreoathetosis, Myoclonus, Ataxia, Spastic para...	ORPHA:726
Cockayne Syndrome Type 1	Conjunctivitis, Enamel hypoplasia, Foot joint contracture, Scarring, Gait disturbance, Ataxia, Ma...	ORPHA:90321
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Gait ataxia, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Progressive ga...	OMIM:606002
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency, Ataxia	OMIM:300653
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis	ORPHA:276630
Xfe Progeroid Syndrome	Enamel hypoplasia, Premature ovarian insufficiency, Poor coordination, Corneal scarring, Scoliosi...	OMIM:610965
Galloway-Mowat Syndrome	Camptodactyly of finger, Nephrotic syndrome, Hemiplegia/hemiparesis, Nephropathy, Abnormal interv...	ORPHA:2065
Sjögren-Larsson Syndrome	Spasticity, Abnormal pyramidal sign, Kyphosis, Spastic diplegia, Scoliosis	ORPHA:816
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Impaired distal tactile sensation, Somatic sensory dysfunction, Steppage gait, Fasciculations	OMIM:600882
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Myoclonus, Unsteady gait, Hypertonia	OMIM:610090
19P13.3 Microduplication Syndrome	Downslanted palpebral fissures, Epicanthus, Kyphoscoliosis, Upslanted palpebral fissure, Telecanthus	ORPHA:447980
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Ataxia, Testicular atrophy, Ptosis, Tremor, Hydronephrosis	OMIM:222300
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria	OMIM:268200
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Dementia, Tremor, Frequent falls, Progressive neurologic deterioration, Anxiety, Di...	ORPHA:329478
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Abnormal pyramidal sign, Neurogenic bladder, Myoclonus, Dysmetria, Involuntary movements	OMIM:619780
Cystinosis	Aminoaciduria, Abnormal pyramidal sign, Gait disturbance, Nephropathy, Proteinuria, Renal insuffi...	ORPHA:213
Childhood-Onset Spasticity With Hyperglycinemia	Spastic diplegia, Progressive spasticity, Spastic dysarthria, Loss of ability to walk in early ch...	ORPHA:401866
Familial Multinodular Goiter	Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Colorectal polyposis, Alveol...	ORPHA:276399
Pyruvate Dehydrogenase Deficiency	Multiple lipomas, Spasticity, Abnormal pyramidal sign, Cerebral palsy, Epicanthus, Choreoathetosi...	ORPHA:765
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Spasticity, Tremor, Self-injurious behavior, Inability to walk	OMIM:618718
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria, Ataxia	OMIM:603585
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Congenital diaphragmatic hernia, Tremor, Scoliosis, Sparse eyelashes, Hemivertebr...	ORPHA:370079
Presynaptic Congenital Myasthenic Syndromes	Tip-toe gait, Neuropathic spinal arthropathy, Spinal rigidity, Ataxia, Ptosis, Kyphoscoliosis, Di...	ORPHA:98914
Pontocerebellar Hypoplasia, Type 1A	Congenital contracture, Hand tremor, Limb ataxia, Ataxia, Tongue fasciculations, Fasciculations	OMIM:607596
Congenital Myasthenic Syndrome	Tip-toe gait, Neuropathic spinal arthropathy, Spinal rigidity, Ataxia, Ptosis, Kyphoscoliosis, Di...	ORPHA:590
Developmental And Epileptic Encephalopathy 72	Hyperkinetic movements, Inability to walk	OMIM:618374
Familial Male-Limited Precocious Puberty	Oligospermia, Male infertility, Long penis	ORPHA:3000
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Urinary incontinence, Loss of ability to walk in first decade, Flexion contracture, Truncal ataxi...	OMIM:300243
Joubert Syndrome With Renal Defect	Oculomotor apraxia, Gait disturbance, Ataxia, Ptosis, Nephropathy, Tremor, Scoliosis, Renal insuf...	ORPHA:220497
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Irregular vertebral endplates, Hypoplasia of the odontoid process, Cervical subluxation, Kyphosco...	OMIM:184100
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Cervical spinal canal stenosis, Scoliosis, Kyphosis	OMIM:301900
Ataxia-Telangiectasia	Spasticity, Cognitive impairment, Gait disturbance, Ataxia, Tremor	ORPHA:100
O'Sullivan-Mcleod Syndrome	Somatic sensory dysfunction, Tremor, Fasciculations	ORPHA:99965
Developmental And Epileptic Encephalopathy 49	Spasticity, Long eyelashes, Myoclonus	OMIM:617281
Amish Nemaline Myopathy	Tremor	ORPHA:98902
Pontocerebellar Hypoplasia, Type 10	Spasticity, Limb hypertonia, Synophrys, Long eyelashes, Long palpebral fissure, Kyphoscoliosis, S...	OMIM:615803
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Horseshoe kidney, Kyphoscoliosis	OMIM:163200
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Truncal ataxia, Scoliosis, Difficulty walking, Hyperkinetic movements	ORPHA:369847
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Myoclonus, Ataxia, Ptosis, Polyuria	OMIM:560000
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Elevated urinary homogentisic acid, Decreased glomerul...	OMIM:203500
Crisponi/Cold-Induced Sweating Syndrome 1	Elbow flexion contracture, Camptodactyly, Kyphoscoliosis, Short neck, Opisthotonus	OMIM:272430
X-Linked Intellectual Disability Due To Gria3 Mutations	Spasticity, Kyphosis, Myoclonus, Babinski sign, Ptosis, Pain insensitivity, Scoliosis, Eversion o...	ORPHA:364028
Isochromosomy Yp	Male infertility, Azoospermia	ORPHA:98797
Neurodevelopmental Disorder With Spasticity And Poor Growth	Knee flexion contracture, Vesicoureteral reflux, Spasticity, Limb hypertonia, Epicanthus, Oculomo...	OMIM:618076
Spondylometaphyseal Dysplasia, Kozlowski Type	Elbow flexion contracture, Hypoplasia of the odontoid process, Kyphoscoliosis, Short neck, Scolio...	OMIM:184252
Epilepsy, Early-Onset, Vitamin B6-Dependent	Upslanted palpebral fissure, Myoclonus, Hypertonia	OMIM:617290
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Spasticity, Myoclonus, Hypertonia	OMIM:225753
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria	OMIM:616026
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence, Spasticity, Apraxia, Myoclonus, Gait disturbance, Babinski sign	OMIM:221770
Riboflavin Transporter Deficiency	Hypogonadism, Myoclonus, Ataxia, Ptosis, Tremor	ORPHA:97229
Central Core Disease	Kyphoscoliosis, Multiple joint contractures	ORPHA:597
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Congenital Muscular Dystrophy, Ullrich Type	Kyphosis, Spinal rigidity, Torticollis, Short neck, Frequent falls, Scoliosis	ORPHA:75840
Primary Hyperoxaluria Type 1	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, He...	ORPHA:93598
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Spastic tetraplegia	OMIM:618237
13Q12.3 Microdeletion Syndrome	Camptodactyly, Congenital diaphragmatic hernia, Kyphoscoliosis, Impaired pain sensation, Upper ey...	ORPHA:412035
Adult-Onset Dystonia-Parkinsonism	Spasticity, Frontotemporal dementia, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism with favo...	ORPHA:199351
Xeroderma Pigmentosum, Complementation Group C	Hypopigmentation of the skin, Squamous cell carcinoma of the skin, Actinic keratosis, Basal cell ...	OMIM:278720
Hereditary Hyperekplexia	Spasticity, Hernia, Rigidity, Myoclonus, Gait disturbance, Ataxia, Hypertonia, Hiatus hernia, Umb...	ORPHA:3197
Myopathy, Mitochondrial, And Ataxia	Multiple lipomas, Dysdiadochokinesis, Inability to walk, Truncal ataxia, Limb ataxia, Ataxia, Dys...	OMIM:617675
Spondyloepiphyseal Dysplasia Tarda	Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Bic...	ORPHA:93284
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Downslanted palpebral fissures, Hypogonadism, Epicanthus, Blepharophimos...	ORPHA:85293
Donnai-Barrow Syndrome	Downslanted palpebral fissures, Congenital diaphragmatic hernia, Proteinuria, Omphalocele, Umbili...	ORPHA:2143
Ceroid Lipofuscinosis, Neuronal, 3	Abnormality of extrapyramidal motor function, Myoclonus, Loss of ambulation, Parkinsonism	OMIM:204200
Leukodystrophy, Hypomyelinating, 10	Downslanted palpebral fissures, Upslanted palpebral fissure, Spasticity, Inability to walk, Promi...	OMIM:616420
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spinocerebellar Ataxia 13	Gait ataxia, Spasticity, Abnormal pyramidal sign, Impaired distal vibration sensation, Myoclonus,...	OMIM:605259
Clcn4-Related X-Linked Intellectual Disability Syndrome	Chorea, Upper limb spasticity, Myoclonus, Inguinal hernia, Unsteady gait, Scoliosis, Lower limb s...	ORPHA:485350
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Synophrys, Kyphoscoliosis	OMIM:620075
Neurogenic Arthrogryposis Multiplex Congenita	Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Elbow ...	ORPHA:1143
Gitelman Syndrome	Tubulointerstitial nephritis, Urinary incontinence, Chondrocalcinosis, Paresthesia, Renal tubular...	ORPHA:358
Peho-Like Syndrome	Myoclonus, Epicanthus	OMIM:617507
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Progressive neurologic deterioration	ORPHA:276608
Monosomy 18Q	Downslanted palpebral fissures, Epicanthus, Poor coordination, Choreoathetosis, Kyphoscoliosis, A...	ORPHA:1600
Combined Oxidative Phosphorylation Deficiency 11	Renal tubular acidosis, Renal dysplasia, Myoclonus, Tongue fasciculations, Renal cyst, Renal hypo...	OMIM:614922
Becker Muscular Dystrophy	Tip-toe gait, Falls, Abnormal urinary color, Difficulty walking, Myoglobinuria	ORPHA:98895
Myoclonus, Intractable, Neonatal	Chorea, Ptosis, Myoclonus, Athetosis	OMIM:617235
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Spasticity, Hip contracture, Gait imbalance, Inability to walk, Ataxia,...	ORPHA:488642
Pyruvate Dehydrogenase E1-Alpha Deficiency	Myoclonus, Choreoathetosis, Episodic ataxia, Ptosis, Tremor, Dystonia	OMIM:312170
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Renal artery stenosis, Proteinuria	OMIM:209010
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Contractures of the large joints, Spastic tetraplegia, Inability to walk, Kyphoscoliosis, Steppag...	ORPHA:324410
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Akinesia, Apathy, Parkinsonism with favor...	ORPHA:411602
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Spasticity, Impotence, Hemiparesis, Ataxia, Paraplegia, Tremor	OMIM:105210
Inclusion Body Myopathy And Brain White Matter Abnormalities	Ptosis, Low back pain, Fasciculations, Babinski sign	OMIM:619733
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis	ORPHA:2598
Postencephalitic Parkinsonism	Tremor by anatomical site, Abnormal pyramidal sign, Paresthesia, Akinesia, Resting tremor, Rigidi...	ORPHA:97349
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Gait ataxia, Downslanted palpebral fissures, Sparse eyebrow, Kyphosis, Broad eyebrow, Shallow orb...	ORPHA:457359
Episodic Ataxia, Type 5	Truncal ataxia, Myoclonus, Episodic ataxia, Ataxia	OMIM:613855
Alagille Syndrome 1	Vesicoureteral reflux, Upslanted palpebral fissure, Multiple small medullary renal cysts, Renal t...	OMIM:118450
Multiple Mitochondrial Dysfunctions Syndrome 1	Alpha-aminoadipic aciduria, Increased urine alpha-ketoglutarate concentration, Abnormality of ext...	OMIM:605711
Marinesco-Sjogren Syndrome	Gait ataxia, Spasticity, Kyphosis, Limb ataxia, Ataxia, Scoliosis	OMIM:248800
Nail-Patella Syndrome	Back pain, Nephrotic syndrome, Hematuria, Antecubital pterygium, Glomerulonephritis, Ptosis, Scol...	OMIM:161200
Acrorenal-Mandibular Syndrome	Downslanted palpebral fissures, Abnormal sacral segmentation, Epicanthus, Polycystic kidney dyspl...	OMIM:200980
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:1548
Spondylometaphyseal Dysplasia, X-Linked	Thoracolumbar scoliosis, Kyphosis, Platyspondyly	OMIM:313420
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Aggressive behavior, Spastic tetraplegia, Limb hypertonia, Ataxia, Dysmetria, Tremor, Hypertonia,...	OMIM:617710
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Impaired distal vibration sensation, Tip-toe gait, Steppage gait, Distal sensory impairment, Fasc...	OMIM:614436
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor	OMIM:619790
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tip-toe gait, Gait disturbance, Babinski sign, Spastic paraplegia, Tremor	ORPHA:83629
Parkinsonian-Pyramidal Syndrome	Spasticity, Abnormal pyramidal sign, Shuffling gait, Neurogenic bladder, Parkinsonism, Rigidity, ...	ORPHA:171695
Pontocerebellar Hypoplasia, Type 7	Spasticity, Epicanthus, Oculomotor apraxia, Myoclonus, Choreoathetosis, Synophrys, Ataxia, Spasti...	OMIM:614969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Hyperlordosis, Vertebral fusion, Tip-toe gait, Kyphosis, Difficulty walking, Frequent falls, Scol...	OMIM:606612
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Myoclonus, Increased level of 3-hydroxy-3-methylglutaric acid in urine, Organic acidu...	OMIM:246450
Supranuclear Palsy, Progressive, 1	Retrocollis, Frontolimbic dementia, Falls, Akinesia, Parkinsonism, Rigidity, Limb dystonia, Eyeli...	OMIM:601104
Multiple System Atrophy 1, Susceptibility To	Urinary incontinence, Impotence, Parkinsonism, Rigidity, Urinary urgency, Ataxia, Babinski sign, ...	OMIM:146500
Paternal Uniparental Disomy Of Chromosome 5	Renal duplication, Kyphoscoliosis	ORPHA:96190
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Ptosis, Myoclonus, Intention tremor	OMIM:610539
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ptosis, Spasticity, Ataxia, Myoclonus	OMIM:618225
Fetal Akinesia Deformation Sequence 4	Short neck, Kyphosis	OMIM:618393
Baralle-Macken Syndrome	Kyphosis, Spasticity, Inability to walk	OMIM:619255
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Conjunctivitis, Flexion contracture, Hernia, Inability to walk, Nephrotic syndrome, Epicanthus, E...	ORPHA:505248
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hyperlordosis, Fasciculations, Urinary bladder sphincter dysfunction, Upper motor neuron dysfunct...	ORPHA:52430
Pontocerebellar Hypoplasia, Type 1D	Spasticity, Flexion contracture, Multiple joint contractures, Epicanthus, Short neck, Tongue fasc...	OMIM:618065
Ogden Syndrome	Sparse eyebrow, Downslanted palpebral fissures, Abnormal eyelid morphology, Bilateral ptosis, Epi...	OMIM:300855
Kallmann Syndrome	Decreased fertility, Renal agenesis, Hypoplasia of penis, Gait disturbance, Erectile dysfunction,...	ORPHA:478
Progressive Myoclonic Epilepsy Type 3	Limb myoclonus, Chin myoclonus, Myoclonus, Progressive truncal ataxia, Progressive cerebellar ataxia	ORPHA:263516
Orthostatic Hypotension 2	Decreased glomerular filtration rate	OMIM:618182
Myopathy With Extrapyramidal Signs	Chorea, Epicanthus, Clumsiness, Abnormality of extrapyramidal motor function, Choreoathetosis, At...	OMIM:615673
Molybdenum Cofactor Deficiency, Complementation Group A	Increased urinary taurine, Spastic tetraplegia, Myoclonic spasms, Increased urinary thiosulfate, ...	OMIM:252150
Machado-Joseph Disease Type 1	Spasticity, Abnormal pyramidal sign, Neurogenic bladder, Progressive gait ataxia, Clumsiness, Abn...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Abnormal pyramidal sign, Neurogenic bladder, Progressive gait ataxia, Clumsiness, Abn...	ORPHA:276241
Fabry Disease	Paresthesia, Urinary mulberry cells, Proteinuria, Renal insufficiency, Lipiduria, Fasciculations	OMIM:301500
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Abnormal posturing, Lethargy	OMIM:614857
Mepan Syndrome	Chorea, Spasticity, Limb dystonia, Myoclonus, Hemidystonia, Gait disturbance, Ataxia, Axial dysto...	ORPHA:508093
Nipah Virus Disease	Myoclonus, Tremor	ORPHA:99825
48,Xxxy Syndrome	Hypogonadism, Renal dysplasia, Epicanthus, Blepharophimosis, Infertility, Hypoplasia of penis, Az...	ORPHA:96263
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Kyp...	OMIM:313400
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Spastic tetraplegia, Cerebral palsy, Limb dystonia, Myoclonus, Babinski sign, Hyperto...	OMIM:619847
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Distal sensory impairment, Fasciculations	OMIM:137200
Brown-Vialetto-Van Laere Syndrome 1	Ankle clonus, Kyphosis, Clumsiness, Ataxia, Knee clonus, Scoliosis, Vocal cord paralysis, Tongue ...	OMIM:211530
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Nephrocalcinosis, Kyphoscoliosis, Joint contracture	OMIM:618005
Salt And Pepper Developmental Regression Syndrome	Myoclonus, Choreoathetosis	OMIM:609056
Combined Oxidative Phosphorylation Deficiency 18	Dysmetria, Tremor	OMIM:615578
Ohdo Syndrome	Sparse eyebrow, Epicanthus, Blepharophimosis, Ptosis, Proteinuria	OMIM:249620
Abetalipoproteinemia	Gait ataxia, Keratoconjunctivitis sicca, Upper motor neuron dysfunction, Ataxia, Babinski sign, P...	ORPHA:14
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Waddling gait	OMIM:618138
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Abnormal renal physiology, Tremor, Proteinuria, Microscopic hematuria	OMIM:274150
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abnormality of the kidney, Proteinuria	ORPHA:369
Pelizaeus-Merzbacher Disease	Spasticity, Kyphosis, Choreoathetosis, Gait disturbance, Ataxia, Scoliosis	ORPHA:702
Lymphedema-Distichiasis Syndrome	Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Conjunctivitis, Recurrent urinar...	ORPHA:33001
Leiomyomatosis, Diffuse, With Alport Syndrome	Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren...	OMIM:308940
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Downslanted palpebral fissures, Epicanthus, Progressive congenital scoliosis, Bladder diverticulu...	OMIM:225400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Conjunctivitis, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albumin...	ORPHA:95455
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Ataxia, Babinski sign, Spast...	OMIM:618598
Arthrogryposis And Ectodermal Dysplasia	Entropion, Joint contracture of the hand, Blepharophimosis, Narrow palpebral fissure, Camptodacty...	OMIM:601701
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Dysdiadochokinesis, Myoclonus, Ataxia, Babinski sign, Dysmetria, Hypertonia, Intention tremor	OMIM:618356
Robinow Syndrome, Autosomal Dominant 2	Sacral dimple, Camptodactyly, Kyphoscoliosis, Upslanted palpebral fissure, Micropenis, Umbilical ...	OMIM:616331
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria, Ptosis, Hypogonadism	OMIM:614231
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Gait disturbance, Hand tremor, Tetraplegia, Distal sensory impairment, Fasciculations	OMIM:604484
Neutral Lipid Storage Disease With Myopathy	Difficulty walking, Fasciculations	OMIM:610717
Metatropic Dysplasia	Kyphosis, Abnormal intervertebral disk morphology, Hypoplastic cervical vertebrae, Scoliosis, Abn...	ORPHA:2635
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Eyelid myoclonus, Myoclonus	OMIM:618357
Oromandibular Dystonia	Blepharospasm, Lingual dystonia, Limb dystonia, Torticollis, Laryngeal dystonia, Hyperkinetic mov...	ORPHA:93958
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Brachyolmia Type 3	Short neck, Scoliosis, Kyphosis, Platyspondyly	OMIM:113500
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Urinary incontinence, Spasticity, Sparse eyebrow, Neurogenic bladder, Progressive spasticity, Cat...	ORPHA:496641
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Spasticity, Ankle clonus, Babinski sign, Tetraparesis, Difficulty walking, Lower limb spasticity,...	OMIM:613954
D-Glyceric Aciduria	Chorea, Spasticity, Hyperglycinuria, Myoclonus	ORPHA:941
Isochromosomy Yq	Male infertility, Azoospermia	ORPHA:98798
Myopathy, Centronuclear, 2	Hyperlordosis, Scoliosis, Kyphosis, Waddling gait	OMIM:255200
Glutaryl-Coa Dehydrogenase Deficiency	Chorea, Cognitive impairment, Rigidity, Limb dystonia, Poor motor coordination, Dementia, Ataxia,...	ORPHA:25
Mitochondrial Complex I Deficiency, Nuclear Type 31	Dysmetria, Myoclonus	OMIM:618251
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Abnormality of extrapyramida...	OMIM:277400
Developmental And Epileptic Encephalopathy 89	Downslanted palpebral fissures, Upslanted palpebral fissure, Spasticity, Sparse eyebrow, Flexion ...	OMIM:619124
Leopard Syndrome 1	Epicanthus, Unilateral renal agenesis, Spina bifida occulta, Hypoplasia of the ovary, Hypospadias...	OMIM:151100
Tetanus	Rigidity, Elevated urinary epinephrine, Tremor, Hypertonia, Elevated urinary norepinephrine, Opis...	ORPHA:3299
49,Xxxxy Syndrome	Hypogonadism, Renal dysplasia, Renal hypoplasia/aplasia, Epicanthus, Infertility, Blepharophimosi...	ORPHA:96264
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Chorea, Hyperlordosis, Inability to walk, Truncal ataxia, Ataxia, Waddling gait, Tremor, Difficul...	OMIM:615356
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Apraxia, Myoclonus, Gait disturbance, Babinski sign	OMIM:618193
Juvenile Sialidosis Type 2	Spasticity, Abnormality of the kidney, Myoclonus, Ataxia, Inguinal hernia, Dysmetria, Loss of amb...	ORPHA:93399
Ullrich Congenital Muscular Dystrophy 2	Kyphoscoliosis, Flexion contracture	OMIM:616470
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Isaacs Syndrome	Distal sensory impairment, Fasciculations	ORPHA:84142
Supranuclear Palsy, Progressive, 2	Retrocollis, Frontolimbic dementia, Falls, Postural tremor, Parkinsonism, Rigidity, Eyelid apraxi...	OMIM:609454
Myotonia With Skeletal Abnormalities And Mental Retardation	Vertebral wedging, Kyphoscoliosis	OMIM:255710
Contractural Arachnodactyly, Congenital	Knee flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Dist...	OMIM:121050
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Membranoproliferative glomerulonephritis, Inguinal hernia, Scoliosis, Micro...	OMIM:619525
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Epicanthus, Atrophic scars, Bladder diverticulum, Inguinal hernia, Atlantoaxial instability, Kyph...	OMIM:614557
Smith-Mccort Dysplasia 1	Kyphosis, Hypoplasia of the odontoid process, Atlantoaxial instability, Scoliosis, Platyspondyly,...	OMIM:607326
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Truncal ataxia, Myoclonus, Episodic ataxia, Morning myoclonic jerks	OMIM:607682
Microcephalic Primordial Dwarfism, Montreal Type	Vertebral segmentation defect, Kyphosis, Scoliosis, Hypertonia	ORPHA:2617
Spondylometaphyseal Dysplasia, Kozlowski Type	Increased intervertebral space, Kyphosis, Thoracic kyphosis, Vertebral wedging, Hypoplasia of the...	ORPHA:93314
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Biconcave vertebral bodies, Vertebral wedging, Kyphoscoliosis, Scolios...	OMIM:610968
Sandhoff Disease	Urinary incontinence, Spasticity, Exaggerated startle response, Impotence, Upper motor neuron dys...	OMIM:268800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Gait ataxia, Exaggerated startle response, Limb hypertonia, Truncal titubation, Dysmetria, Tremor...	OMIM:618056
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Dementia	OMIM:278760
Cryoglobulinemic Vasculitis	Glomerulopathy, Keratoconjunctivitis sicca, Hematuria, Proteinuria, Renal insufficiency	ORPHA:91138
Kyphoscoliotic Ehlers-Danlos Syndrome	Downslanted palpebral fissures, Epicanthus, Synophrys, Bladder diverticulum, Inguinal hernia, Con...	ORPHA:536545
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Hematuria, Proteinuria	ORPHA:1765
Developmental And Epileptic Encephalopathy 109	Gait ataxia, Spasticity, Myoclonus, Crouch gait	OMIM:620145
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Spasticity, 3-Methylglutaconic aciduria, Ketonuria, Ptosis, Difficulty walking, Myoglobinuria, Wa...	OMIM:251900
Flynn-Aird Syndrome	Impaired pain sensation, Kyphosis, Scoliosis, Ataxia	ORPHA:2047
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Memory impairment, Ataxia, Mental deterioration	ORPHA:79095
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Proteinuria, Bilateral renal agenesis, Primary amenorrhea	OMIM:191830
Hall-Riggs Mental Retardation Syndrome	Irregular vertebral endplates, Scoliosis, Kyphosis, Platyspondyly	OMIM:234250
Microcephaly-Capillary Malformation Syndrome	Spastic tetraparesis, Vesicoureteral reflux, Myoclonus, Ptosis	OMIM:614261
Kagami-Ogata Syndrome	Short palpebral fissure, Flexion contracture, Blepharophimosis, Inguinal hernia, Kyphoscoliosis, ...	OMIM:608149
Arima Syndrome	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy...	OMIM:243910
De Barsy Syndrome	Downslanted palpebral fissures, Epicanthus, Inguinal hernia, Lipodystrophy, Kyphoscoliosis, Progr...	ORPHA:2962
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Synophrys, Myoclonus, Long eyelashes, Thick eyebrow, Telecanthus	ORPHA:411986
Jaberi-Elahi Syndrome	Gait ataxia, Sparse eyebrow, Inability to walk, Appendicular spasticity, Kyphosis, Choreoathetosi...	OMIM:617988
Congenital Disorder Of Deglycosylation 1	Chondroitin sulfate excretion in urine, Chorea, 3-Methylglutaconic aciduria, Myoclonus, Ptosis, K...	OMIM:615273
Tay-Sachs Disease	Poor fine motor coordination, Exaggerated startle response, Ankle clonus, Inability to walk, Prog...	ORPHA:845
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Ataxia, Spasticity, Intention tremor, Dementia	OMIM:117300
Lesch-Nyhan Syndrome	Spasticity, Abnormality of extrapyramidal motor function, Choreoathetosis, Testicular atrophy, Dy...	OMIM:300322
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Neurogenic bladder, Myoclonus, Scoliosis, Dystonia	OMIM:617669
Martin-Probst Syndrome	Telecanthus, Epicanthus, Narrow palpebral fissure, Proteinuria, Renal insufficiency, Micropenis, ...	OMIM:300519
Developmental And Epileptic Encephalopathy 4	Tremor, Choreoathetosis, Spastic tetraplegia, Spastic paraplegia	OMIM:612164
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Difficulty walking, Broad-based gait, Waddling gait	ORPHA:119
Autism Spectrum Disorder Due To Auts2 Deficiency	Spasticity, Cerebral palsy, Kyphosis, Scoliosis, Hypertonia	ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 26	Cerebral palsy, Kyphosis, Scoliosis, Hypertonia	OMIM:615834
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Loss of ambulation, Fasciculations	OMIM:613435
Acrootoocular Syndrome	Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Grayish enamel, Kyphoscoliosis	ORPHA:2980
Wiedemann-Rautenstrauch Syndrome	Dilatation of renal calices, Camptodactyly of finger, Lagophthalmos, Truncal ataxia, Synophrys, R...	ORPHA:3455
Genitourinary And/Or Brain Malformation Syndrome	Urogenital sinus anomaly, Short palpebral fissure, Omphalocele, Epicanthus, Ptosis, Hypospadias, ...	OMIM:618820
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis...	OMIM:300554
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Wilson Disease	Aminoaciduria, Chondrocalcinosis, Glycosuria, Rigidity, Hyperphosphaturia, Parkinsonism with favo...	OMIM:277900
Schinzel-Giedion Syndrome	Nephroblastoma, Sacrococcygeal teratoma, Spasticity, Shallow orbits, Camptodactyly, Renal cyst, I...	ORPHA:798
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Non-Functioning Paraganglioma	Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine, Tremor, Vocal cord paralysis,...	ORPHA:94080
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Tremor	OMIM:618527
Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Proteinuria, Renal Fanconi syndrome, Tremor	ORPHA:263455
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Scoliosis, Kyphosis	OMIM:252605
12Q14 Microdeletion Syndrome	Synophrys, Ectopic kidney, Tremor, Horseshoe kidney, Scoliosis, Renal hypoplasia, Thick eyebrow	ORPHA:94063
Episodic Ataxia Type 7	Hyperkinetic movements, Episodic ataxia	ORPHA:209970
Joubert Syndrome With Hepatic Defect	Multicystic kidney dysplasia, Oculomotor apraxia, Gait disturbance, Ataxia, Ptosis, Nephropathy, ...	ORPHA:1454
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Gait disturbance, Fasciculations	OMIM:608030
Geroderma Osteodysplasticum	Downslanted palpebral fissures, Biconcave vertebral bodies, Irregular vertebral endplates, Campto...	OMIM:231070
Ck Syndrome	Hyperlordosis, Scoliosis, Kyphosis	OMIM:300831
Renal Cysts And Diabetes Syndrome	Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Reduced sperm motility, Un...	OMIM:137920
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Chorea, Horizontal eyebrow, Abnormal location of the eyebrow, Hemiballismus, Epicanthus, Choreoat...	ORPHA:522077
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse eyebrow, Flexion contracture, Generalized lipodystrophy, Proteinuria, Focal segmental glom...	OMIM:619127
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infert...	ORPHA:261529
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurrent myoglobinuria, Chronic...	ORPHA:368
Scapuloperoneal Spinal Muscular Atrophy	Hyperlordosis, Kyphosis, Torticollis, Scoliosis, Distal sensory impairment, Broad-based gait	OMIM:181405
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Anterior atlanto-occipital dislocation, Dentinogenesis imperfecta, Multiple joint contractures, T...	ORPHA:536467
Nemaline Myopathy 5	Tremor	OMIM:605355
Alport Syndrome 1, X-Linked	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep...	OMIM:301050
Rett Syndrome	Gait ataxia, Spasticity, Gait apraxia, Kyphosis, Truncal ataxia, Scoliosis	OMIM:312750
Simple Cryoglobulinemia	Paresthesia, Nephrotic syndrome, Abnormality of the kidney, Membranoproliferative glomerulonephri...	ORPHA:91139
Hyperphosphatasia-Intellectual Disability Syndrome	Epicanthus, Oculomotor apraxia, Myoclonus, Gait disturbance, Long palpebral fissure, Ataxia, Shor...	ORPHA:247262
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Mitochondrial Dna Depletion Syndrome 19	Spasticity, Hypospadias, Tetraparesis, Myoclonus	OMIM:618972
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamines, Hyperlordosis, Elevated urinary vanillylmandelic acid, Reduced s...	ORPHA:653
Ane Syndrome	Hypogonadotropic hypogonadism, Lipoatrophy, Kyphoscoliosis, Multiple joint contractures	ORPHA:157954
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp...	ORPHA:204
Heme Oxygenase 1 Deficiency	Proteinuria, Hematuria, Nephritis, Chemosis	OMIM:614034
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Gait ataxia, Spastic tetraplegia, Spastic diplegia, Ketonuria, Poor coordination, Gait disturbanc...	OMIM:616878
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Kyphosis	OMIM:618234
Osteogenesis Imperfecta, Type Ix	Scoliosis, Kyphosis, Platyspondyly	OMIM:259440
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypermagnesiuria, Myoclonic spasms, Hyperkinetic movements, Ne...	ORPHA:73224
Lennox-Gastaut Syndrome	Myoclonus, Falls	ORPHA:2382
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, Polyuria, Decr...	OMIM:613090
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Scoliosis, Kyphosis	ORPHA:178148
Legionnaires Disease	Cellulitis, Hematuria, Ataxia, Proteinuria, Renal insufficiency	ORPHA:549
Renal Nutcracker Syndrome	Infertility, Hematuria, Dyspareunia, Renal artery stenosis, Proteinuria, Dysmenorrhea, Microscopi...	ORPHA:71273
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Spastic tetraplegia, Akinesia, Hypospadias, Mild proteinuria, Hypertonia, Renal insufficiency	OMIM:619147
Distal Monosomy 12Q	Vesicoureteral reflux, Downslanted palpebral fissures, Polycystic kidney dysplasia, Elbow flexion...	ORPHA:96149
Carpenter Syndrome	Kyphoscoliosis, Umbilical hernia	ORPHA:65759
Early Myoclonic Encephalopathy	Myoclonus	ORPHA:1935
Marbach-Schaaf Neurodevelopmental Syndrome	Short palpebral fissure, Enuresis nocturna, Epicanthus, Hemidystonia, Torticollis, Tremor, Upslan...	OMIM:619680
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Neurogenic bladder, Myoclonus, Scoliosis, Vocal cord paralysis, Dystonia	ORPHA:500144
Hyperlysinemia	Hyperlysinuria, Tip-toe gait, Neck hypertonia, Spastic diplegia, Clumsiness, Thin eyebrow, Poor m...	ORPHA:2203
Pilomatrixoma	Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Sparse eyebrow, Synophrys, Ptosis, Kyphoscoliosis, Short neck, Scoliosis, Vertebral compression f...	OMIM:309583
Tatton-Brown-Rahman Syndrome	Kyphoscoliosis, Thick eyebrow, Narrow palpebral fissure, Umbilical hernia	ORPHA:404443
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	Kyphosis, Elbow flexion contracture, Kyphoscoliosis, Scoliosis, Platyspondyly, Abnormality of the...	ORPHA:93360
Cardiac-Valvular Ehlers-Danlos Syndrome	Thoracolumbar scoliosis, Atrophic scars, Inguinal hernia, Ptosis, Kyphoscoliosis, Thick eyebrow	ORPHA:230851
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Scoliosis, Kyphosis	OMIM:615761
Mucopolysaccharidosis, Type Vi	Flexion contracture, Dermatan sulfate excretion in urine, Hypoplasia of the odontoid process, Ant...	OMIM:253200
Classical-Like Ehlers-Danlos Syndrome Type 2	Sacral dimple, Widened atrophic scar, Ventral hernia, Bilateral ptosis, Cellulitis, Kyphosis, Ker...	ORPHA:536532
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Severe X-Linked Intellectual Disability, Gustavson Type	Vesicoureteral reflux, Spasticity, Contractures of the large joints, Myoclonus, Hypertonia	ORPHA:3078
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote...	ORPHA:255249
Cornelia De Lange Syndrome 1	Vesicoureteral reflux, Synophrys, Elbow flexion contracture, Long eyelashes, Renal cyst, Reduced ...	OMIM:122470
Benign Samaritan Congenital Myopathy	Epicanthus, Fasciculations	ORPHA:324581
Spondyloenchondrodysplasia	Chorea, Spasticity, Kyphosis, Hematuria, Platyspondyly, Proteinuria, Chronic kidney disease	ORPHA:1855
Pediatric Systemic Lupus Erythematosus	Nephrotic syndrome, Hematuria, Nephritis, Hemiplegia, Proteinuria, Abnormality of the urinary sys...	ORPHA:93552
Agel Amyloidosis	Blepharochalasis, Bilateral ptosis, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca, A...	ORPHA:85448
Neurodegeneration With Brain Iron Accumulation 1	Spasticity, Blepharospasm, Abnormal pyramidal sign, Akinesia, Parkinsonism, Rigidity, Eyelid apra...	OMIM:234200
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	3-Methylglutaconic aciduria, Flexion contracture, Myoclonus, Choreoathetosis, Ptosis, Hypospadias...	ORPHA:17
Renal Agenesis	Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena...	ORPHA:411709
Spermatogenic Failure 38	Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility...	OMIM:618433
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Chorea, Lagophthalmos, Bilateral ptosis, Lingual dystonia, Inability to walk, Oculomotor apraxia,...	ORPHA:404454
X-Linked Emery-Dreifuss Muscular Dystrophy	Hyperlordosis, Back pain, Tip-toe gait, Kyphosis, Spinal rigidity, Gait disturbance, Short neck, ...	ORPHA:98863
Loeys-Dietz Syndrome 5	Downslanted palpebral fissures, Congenital finger flexion contractures, Reduced subcutaneous adip...	OMIM:615582
Dystonia-Aphonia Syndrome	Myoclonus, Gait disturbance, Abnormal urinary odor, Oromandibular dystonia, Unsteady gait, Genera...	ORPHA:412217
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Myoclonus, Long palpebral fissure, Broad-based gait, Telecanthus	OMIM:616158
Pontocerebellar Hypoplasia, Type 2E	Spasticity, Flexion contracture, Spastic tetraplegia, Epicanthus, Myoclonus, Scoliosis, Hypertoni...	OMIM:615851
Developmental And Epileptic Encephalopathy 54	Myoclonus	OMIM:617391
Rheumatic Fever	Chorea, Hemiballismus, Nephrotic syndrome, Gait disturbance, Fasciculations	ORPHA:3099
Pseudoleprechaunism Syndrome, Patterson Type	Abnormality of the odontoid process, Kyphoscoliosis, Bladder diverticulum	ORPHA:2976
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G...	ORPHA:3337
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Thoracolumbar scoliosis, Hyperlordosis, Epicanthus, Kyphoscoliosis, Short neck, Difficulty walkin...	ORPHA:457395
Dravet Syndrome	Poor fine motor coordination, Parkinsonism, Rigidity, Progressive gait ataxia, Myoclonus, Incoord...	ORPHA:33069
Xeroderma Pigmentosum, Complementation Group B	Squamous cell carcinoma of the skin, Basal cell carcinoma, Freckling, Neoplasm, Cutaneous melanom...	OMIM:610651
Amyotrophic Lateral Sclerosis 18	Spasticity, Fasciculations	OMIM:614808
Bruck Syndrome 1	Vertebral wedging, Scoliosis, Kyphosis, Platyspondyly	OMIM:259450
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Abnormal urinary color	ORPHA:90035
Malignant Hyperthermia, Susceptibility To, 1	Rigidity, Myoglobinuria	OMIM:145600
Optic Atrophy 11	Gait apraxia, Ataxia, Dysmetria, Hyperkinetic movements, Athetosis	OMIM:617302
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Kyphoscoliosis	OMIM:618339
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hemiparesis, Proteinuria, Hematuria, Apraxia	OMIM:192315
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Camptodactyly of finger, Abnormality of the orbital region, Spasticity, Abnormal pyramidal sign, ...	ORPHA:468631
D-Glyceric Aciduria	Aminoaciduria, Spasticity, Spastic tetraplegia, Myoclonus, Opisthotonus, Micropenis	OMIM:220120
Molybdenum Cofactor Deficiency, Complementation Group B	Increased urinary taurine, Spastic tetraplegia, Myoclonic spasms, Increased urinary hypoxanthine,...	OMIM:252160
Autoimmune Hypoparathyroidism	Conjunctivitis, Paresthesia, Myoclonic spasms, Calcium nephrolithiasis, Laryngeal dystonia	ORPHA:36913
Cutis Laxa, Autosomal Recessive, Type Iid	Downslanted palpebral fissures, Entropion, Blepharophimosis, Reduced subcutaneous adipose tissue,...	OMIM:617403
Marshall-Smith Syndrome	Kyphosis, Thoracic kyphosis, Synophrys, Atlantoaxial dislocation, Hypoplasia of the odontoid proc...	OMIM:602535
Crisponi Syndrome	Kyphosis, Scoliosis, Hypertonia	ORPHA:1545
Hemorrhagic Fever-Renal Syndrome	Tubulointerstitial nephritis, Back pain, Anuria, Acute tubulointerstitial nephritis, Acute kidney...	ORPHA:340
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Spasticity, Resting tremor, Ataxia, Babinski sign, Head tremor, Mental deterioration, Memory impa...	ORPHA:314404
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Proteinuria, Nephrotic syndrome	ORPHA:330001
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Knee flexion contracture, Myoclonus, Spastic tetraparesis, Short neck, Limb joint contracture, An...	ORPHA:284417
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia	ORPHA:1578
Amyotrophic Lateral Sclerosis 1	Pseudobulbar paralysis, Spasticity, Fasciculations	OMIM:105400
Immunodeficiency 23	Cortical myoclonus, Somatic sensory dysfunction, Myoclonus, Membranoproliferative glomerulonephri...	OMIM:615816
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Cockayne Syndrome	Somatic sensory dysfunction, Inability to walk, Reduced subcutaneous adipose tissue, Keratoconjun...	ORPHA:191
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Myoclonus	OMIM:619057
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Renal insufficiency, Proteinuria	ORPHA:1307
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine, Proteinuria	OMIM:171420
Brain-Lung-Thyroid Syndrome	Chorea, Vesicoureteral reflux, Falls, Involuntary movements, Apraxia, Clumsiness, Myoclonus, Chor...	ORPHA:209905
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria, Loss of ambulation	ORPHA:352479
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Myoclonus, Hypoplasia of penis	ORPHA:168593
Gabriele-De Vries Syndrome	Downslanted palpebral fissures, Sparse eyebrow, Distal arthrogryposis, Tip-toe gait, Epiblepharon...	OMIM:617557
Myoclonic Epilepsy Of Infancy	Poor hand-eye coordination, Myoclonus, Poor motor coordination, Hemiplegia	ORPHA:86909
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Dysdiadochokinesis, Dysmetria, Tremor, Lipoma, Difficulty walking, P...	ORPHA:502423
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Proteinuria, Hyperechogenic kidneys, Chronic kidney disease	OMIM:613845
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Mucopolysaccharidosis, Type Iva	Anterior beaking of lumbar vertebrae, Hyperlordosis, Kyphosis, Hypoplasia of the odontoid process...	OMIM:253000
Serotonin Syndrome	Anxiety, Rigidity, Myoclonus, Tremor, Hypertonia, Clonus, Mental deterioration, Irritability	ORPHA:43116
Uruguay Faciocardiomusculoskeletal Syndrome	Scoliosis, Difficulty walking, Kyphosis	OMIM:300280
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Myoclonus, Ataxia, Lacticaciduria, Dystonia	OMIM:619167
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Clumsiness, Ptosis, Steppage gait, Frequent fall...	ORPHA:521411
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hyperlordosis, Back pain, Tip-toe gait, Kyphosis, Spinal rigidity, Gait disturbance, Scoliosis, W...	ORPHA:98855
You-Hoover-Fong Syndrome	Kyphoscoliosis, Spasticity, Ataxia	OMIM:616954
X-Linked Cerebral Adrenoleukodystrophy	Hoffmann sign, Limb myoclonus, Ankle clonus, Inability to walk, Hemiparesis, Oculomotor apraxia, ...	ORPHA:139396
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Gait ataxia, Urinary incontinence, Kyphosis, Epicanthus, Synophrys, Slanting of the palpebral fis...	ORPHA:476126
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Blepharophimosis, Ptosis, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Myopathy With Lactic Acidosis, Hereditary	Difficulty walking, Myoglobinuria, Frequent falls, Bilateral ptosis	OMIM:255125
Orofaciodigital Syndrome Type 3	Spasticity, Stage 5 chronic kidney disease, Oculomotor apraxia, Myoclonus, Thoracic kyphosis	ORPHA:2752
Emery-Dreifuss Muscular Dystrophy	Hyperlordosis, Back pain, Tip-toe gait, Kyphosis, Spinal rigidity, Gait disturbance, Scoliosis, V...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hyperlordosis, Back pain, Tip-toe gait, Kyphosis, Spinal rigidity, Gait disturbance, Scoliosis, V...	ORPHA:98853
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torticollis, Choreoa...	OMIM:608643
Eosinophilic Granulomatosis With Polyangiitis	Tubulointerstitial nephritis, Glomerulopathy, Hemiplegia/hemiparesis, Hematuria, Gait disturbance...	ORPHA:183
Metachromatic Leukodystrophy	Tip-toe gait, Progressive spasticity, Gait disturbance, Incoordination, Emotional lability, Ataxi...	ORPHA:512
Holoprosencephaly	Chorea, Omphalocele, Spasticity, Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Synop...	ORPHA:2162
Niemann-Pick Disease Type C	Limb dystonia, Cataplexy, Upper motor neuron dysfunction, Axial dystonia, Frequent falls, Aggress...	ORPHA:646
Hemimegalencephaly	Hemiparesis, Myoclonus	ORPHA:99802
Spondylodysplastic Ehlers-Danlos Syndrome	Downslanted palpebral fissures, Flexion contracture, Multiple joint contractures, Hypogonadism, E...	ORPHA:536471
Genetic Recurrent Myoglobinuria	Acute kidney injury, Exercise-induced myoglobinuria, Oliguria, Difficulty walking, Renal insuffic...	ORPHA:99845
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Fasciculations	OMIM:619141
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Downslanted palpebral fissures, Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hem...	ORPHA:86818
Turcot Syndrome With Polyposis	Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,...	ORPHA:99818
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Urinary incontinence, Congenital finger flexion contractures, Somatic sensory dysfunction, Tip-to...	ORPHA:466768
Autosomal Recessive Spastic Paraplegia Type 35	Ankle clonus, Dysdiadochokinesis, Kyphosis, Oculomotor apraxia, Babinski sign, Spastic paraplegia...	ORPHA:171629
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Flexion contracture, Epicanthus, Vocal cord paralysis, Vesicourete...	OMIM:194050
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Opisthotonus, Mild proteinuria	OMIM:619685
Fatal Familial Insomnia	Ataxia, Myoclonus, Urinary retention	OMIM:600072
Brody Disease	Somatic sensory dysfunction, Flexion contracture, Fasciculations	OMIM:601003
Campomelic Dysplasia	Short palpebral fissure, Epicanthus, Blepharophimosis, Cervical kyphosis, Poorly ossified cervica...	OMIM:114290
Cockayne Syndrome A	Irregular menstruation, Enamel hypoplasia, Hip contracture, Hypogonadism, Kyphosis, Reduced subcu...	OMIM:216400
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Gait disturbance, Kyphoscoliosis, Ureteral stenosis, Om...	OMIM:309350
Donnai-Barrow Syndrome	Downslanted palpebral fissures, Non-acidotic proximal tubulopathy, Congenital diaphragmatic herni...	OMIM:222448
Acute Intermittent Porphyria	Urinary incontinence, Somatic sensory dysfunction, Porphyrinuria, Back pain, Urinary retention, R...	ORPHA:79276
Dystonia 26, Myoclonic	Blepharospasm, Torticollis, Myoclonus, Laryngeal dystonia, Dystonia	OMIM:616398
Congenital Contractural Arachnodactyly	Camptodactyly of finger, Flexion contracture, Congenital kyphoscoliosis, Scoliosis, Arthrogryposi...	ORPHA:115
Juvenile Nephropathic Cystinosis	Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast...	ORPHA:411634
Cockayne Syndrome Type 2	Limb hypertonia, Kyphosis, Gait disturbance, Ataxia, Difficulty walking, Lower limb spasticity, S...	ORPHA:90322
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Kyphosis	OMIM:130060
Mcdonough Syndrome	Scoliosis, Kyphosis	ORPHA:2471
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Proteinuria	ORPHA:69126
Bruck Syndrome	Scoliosis, Kyphosis, Platyspondyly	ORPHA:2771
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the vertebral column, Kyphoscoliosis, Scoliosis, Platyspondyly	ORPHA:93316
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment	OMIM:604218
Orofaciodigital Syndrome Type 1	Downslanted palpebral fissures, Multicystic kidney dysplasia, Epicanthus, Ataxia, Tremor, Abnorma...	ORPHA:2750
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hyperlordosis, Lower limb dysmetria, Epicanthus, Renal hypoplasia/aplasia, Kyphoscoliosis, Lisch ...	ORPHA:363700
Typical Nemaline Myopathy	Hyperlordosis, Kyphosis, Spinal rigidity, Gait disturbance, Short neck, Scoliosis, Waddling gait	ORPHA:171436
Spondyloepiphyseal Dysplasia Congenita	Kyphosis, Hypoplasia of the odontoid process, Waddling gait, Atlantoaxial instability, Short neck...	OMIM:183900
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Spasticity, Abnormal pyramidal sign, Paresthesia, Abnormality of extrapyramidal motor function, M...	ORPHA:79279
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis	OMIM:300676
Larsen-Like Syndrome	Kyphoscoliosis	OMIM:608545
Kufor-Rakeb Syndrome	Urinary incontinence, Blepharospasm, Abnormal pyramidal sign, Lingual dystonia, Parkinsonism, Rig...	ORPHA:306674
Cystinosis, Nephropathic	Aminoaciduria, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphaturia, Hematuria, Medullar...	OMIM:219800
Spermatogenic Failure 2	Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia	OMIM:108420
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Osteogenesis Imperfecta, Type Xx	Sparse lateral eyebrow, Vertebral compression fracture, Highly arched eyebrow, Kyphoscoliosis	OMIM:618644
Wieacker-Wolff Syndrome	Hyperlordosis, Spasticity, Kyphosis, Apraxia, Oculomotor apraxia, Short neck, Scoliosis	OMIM:314580
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Short neck, Kyphosis	ORPHA:2522
Malakoplakia	Dysuria, Urinary urgency, Abnormality of the menstrual cycle, Hematuria, Urinary bladder inflamma...	ORPHA:556
4Q21 Microdeletion Syndrome	Tremor, Short neck, Scoliosis, Kyphosis	ORPHA:238750
Behavioral Variant Of Frontotemporal Dementia	Abnormality of extrapyramidal motor function, Gait disturbance, Upper motor neuron dysfunction, F...	ORPHA:275864
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
Scorpion Envenomation	Paresthesia, Ketonuria, Priapism, Glycosuria, Acute kidney injury, Myoclonus, Ataxia, Tremor, Hyp...	ORPHA:466677
Developmental And Epileptic Encephalopathy 68	Spasticity, Flexion contracture, Exaggerated startle response, Myoclonus, Clonus	OMIM:618201
Sialuria	Hyperkinetic movements, Neuropathic spinal arthropathy, Epicanthus	ORPHA:3166
Srd5A3-Cdg	Kyphosis, Ataxia, Abnormal sacrum morphology	ORPHA:324737
Rothmund-Thomson Syndrome, Type 2	Sparse eyebrow, Hypogonadism, Epicanthus, Absent eyelashes, Narrow palpebral fissure, Kyphoscolio...	OMIM:268400
Spondyloepiphyseal Dysplasia Congenita	Back pain, Kyphosis, Spinal rigidity, Waddling gait, Short neck, Cervical instability, Scoliosis,...	ORPHA:94068
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy	OMIM:615084
Gaucher Disease, Type Iii	Spastic paraparesis, Myoclonus, Ataxia	OMIM:231000
Proximal Renal Tubular Acidosis	Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Restrictive Dermopathy 1	Short palpebral fissure, Sparse eyebrow, Aplasia/Hypoplasia of the eyebrow, Flexion contracture, ...	OMIM:275210
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:616950
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Vesicoureteral reflux, Upslanted palpebral fissure, Hypogonadism, Epicanthus, Ptosis, Hypospadias...	OMIM:309580
Multicentric Osteolysis, Nodulosis, And Arthropathy	Wrist flexion contracture, Hip contracture, Camptodactyly of toe, Gait disturbance, Kyphoscoliosi...	OMIM:259600
9P13 Microdeletion Syndrome	Epicanthus, Myoclonus, Hand tremor, Scoliosis, Thick eyebrow, Highly arched eyebrow, Umbilical he...	ORPHA:324313
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Atrophic scars, Kyphoscoliosis, Platyspondyly, Joint contracture, Cervical spine instability	OMIM:615349
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Aminoaciduria, Nephrolithiasis, Abnormal dental enamel morphology, Clonus, Upslan...	ORPHA:534
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Kyphoscoliosis, Cervical instability, Thoracolumbar kyphosis, Platyspondyly	OMIM:617425
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Knee flexion contracture, Hip contracture, Minimal subcutaneous fat, Hypospadias, Kyphoscoliosis,...	OMIM:210730
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Spasticity, Inability to walk, Kyphosis, Ataxia, Scoliosi...	OMIM:618443
Amyotrophic Lateral Sclerosis 8	Loss of ambulation, Abnormal pyramidal sign, Postural tremor, Fasciculations	OMIM:608627
Majeed Syndrome	Glomerulopathy, Proteinuria, Flexion contracture, Microscopic hematuria	ORPHA:77297
Arthrogryposis, Distal, Type 4	Lumbar scoliosis, Torticollis, Scoliosis, Kyphosis	OMIM:609128
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Xeroderma Pigmentosum, Complementation Group E	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	OMIM:278740
Floating-Harbor Syndrome	Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycystic kidney dysplasia,...	ORPHA:2044
Abeta Amyloidosis, Iowa Type	Myoclonus, Gait disturbance	ORPHA:324708
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Camptodactyly of finger, Sparse eyebrow, Intervertebral space narrowing, Flexion contracture, Irr...	OMIM:143095
Joubert Syndrome	Oculomotor apraxia, Gait disturbance, Ataxia, Ptosis, Tremor, Scoliosis, Highly arched eyebrow, A...	ORPHA:475
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic...	ORPHA:157
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Vesicoureteral reflux, Spasticity, Renal dysplasia, Epicanthus, Bladder trabeculation, Choreoathe...	OMIM:614080
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Hyperlysinuria, Abnormal renal tubule morphology, Ornithinuria, Oro...	ORPHA:470
Kohlschutter-Tonz Syndrome-Like	Downslanted palpebral fissures, Spasticity, Enamel hypoplasia, Inability to walk, Recurrent urina...	OMIM:619229
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Kyphosis	ORPHA:3085
Combined Oxidative Phosphorylation Deficiency 15	Abnormal pyramidal sign, Cognitive impairment, Incoordination, Ataxia, Tremor, Progressive neurol...	OMIM:614947
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Spasticity, Spastic tetraplegia, Kyphosis, Rigidity, Ataxia, Difficulty walking, Platyspondyly, S...	OMIM:618476
Arthrogryposis, Distal, Type 5	Kyphosis, Scoliosis, Hypertonia	OMIM:108145
Robinow Syndrome	Fused thoracic vertebrae, Multicystic kidney dysplasia, Webbed penis, Kyphoscoliosis, Scoliosis, ...	ORPHA:97360
Alzheimer Disease 3	Apraxia, Abnormality of extrapyramidal motor function, Myoclonus, Gait disturbance, Babinski sign...	OMIM:607822
Ataxia-Telangiectasia	Female hypogonadism, Abnormal spermatogenesis, Dysdiadochokinesis, Inability to walk, Myoclonus, ...	OMIM:208900
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Scoliosis, Kyphosis	OMIM:619797
3Q27.3 Microdeletion Syndrome	Downslanted palpebral fissures, Kyphoscoliosis	ORPHA:397695
Immunoglobulin A Vasculitis	Glomerulopathy, Hemiplegia/hemiparesis, Hematuria, Proteinuria, Orchitis, Renal insufficiency	ORPHA:761
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Scoliosis, Kyphosis	ORPHA:1883
Wieacker-Wolff Syndrome, Female-Restricted	Spasticity, Kyphosis, Inability to walk, Oculomotor apraxia, Short neck, Scoliosis	OMIM:301041
Pseudohypoparathyroidism Type 2	Myoclonic spasms, Paresthesia, Low urinary cyclic AMP response to PTH administration, Laryngeal d...	ORPHA:94090
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Fasciculations	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Fasciculations	OMIM:616437
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphosis, Ataxia, Kyphoscoliosis, Tremor, Scoliosis, Upslanted palpebral fissure, Speech apraxia	OMIM:300967
Lathosterolosis	Downslanted palpebral fissures, Epicanthus, Myoclonus, Hypoplasia of penis, Ptosis, Horseshoe kid...	ORPHA:46059
Pseudo-Torch Syndrome 3	Acute kidney injury, Proteinuria	OMIM:618886
Lymphatic Filariasis	Nephrotic syndrome, Abnormality of the kidney, Hematuria, Glomerulonephritis, Orchitis, Proteinur...	ORPHA:2035
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Chronic kidney disease	ORPHA:284426
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Gait ataxia, Tremor, Kyphosis	OMIM:300354
Cocaine Intoxication	Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Glomerulonephritis, Tremor, Involun...	ORPHA:90068
Mucopolysaccharidosis Type 4	Hyperlordosis, Kyphosis, Gait disturbance, Spinal canal stenosis, Short neck, Scoliosis, Platyspo...	ORPHA:582
Noonan Syndrome 1	Downslanted palpebral fissures, Hypogonadism, Epicanthus, Ptosis, Hypospadias, Male infertility, ...	OMIM:163950
Spermatogenic Failure 75	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619949
Weismann-Netter Syndrome	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3344
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria	ORPHA:57
Intellectual Developmental Disorder, Autosomal Dominant 54	Urinary retention, Inability to walk, Ataxia, Vocal cord paralysis, Lower limb spasticity, Hyperk...	OMIM:617799
Ethylene Glycol Poisoning	Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Myoclonus, Ataxia, Slurred ...	ORPHA:31826
Microcephaly, Amish Type	Myoclonus, Flexion contracture, Limb hypertonia	OMIM:607196
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hypercalciuria	ORPHA:2239
Alternating Hemiplegia Of Childhood	Chorea, Aggressive behavior, Abnormal pyramidal sign, Rigidity, Episodic hemiplegia, Oculomotor a...	ORPHA:2131
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Flexion contracture, Paresthesia, Cerebral palsy, Gait disturban...	ORPHA:682
Myopathy, Myofibrillar, 2	Fasciculations	OMIM:608810
Posttransplant Acute Limbic Encephalitis	Myoclonus, Dystonia, Ataxia	ORPHA:163921
Wagro Syndrome	Nephroblastoma, Ptosis, Proteinuria, Downslanted palpebral fissures	OMIM:612469
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis	ORPHA:397744
Ruvalcaba Syndrome	Scoliosis, Kyphosis	OMIM:180870
Pediatric-Onset Graves Disease	Hyperkinetic movements, Tremor, Abnormal eyelid morphology	ORPHA:525731
Pseudoachondroplasia	Kyphosis, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Waddling gait, Scoliosis,...	OMIM:177170
Juvenile Absence Epilepsy	Myoclonus	ORPHA:1941
Rhizomelic Syndrome, Urbach Type	Kyphosis, Short neck, Abnormal form of the vertebral bodies	ORPHA:3098
Alpha-Mannosidosis	Short neck, Scoliosis, Kyphosis	ORPHA:61
Basilar Impression, Primary	Kyphoscoliosis, Horner syndrome, Short neck	OMIM:109500
Gm1 Gangliosidosis	Hyperlordosis, Spasticity, Kyphosis, Abnormality of extrapyramidal motor function, Gait disturban...	ORPHA:354
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Myoclonus, Scoliosis, Cerebral palsy	OMIM:617600
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis	ORPHA:137834
Subaortic Stenosis-Short Stature Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:3191
Becker Nevus Syndrome	Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:64755
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a...	ORPHA:228308
Glycogen Storage Disease Vii	Exercise-induced myoglobinuria	OMIM:232800
Mucopolysaccharidosis, Type Ivb	Hyperlordosis, Kyphosis, Hypoplasia of the odontoid process, Cervical subluxation, Ataxia, Ovoid ...	OMIM:253010
Multifocal Motor Neuropathy	Fasciculations	ORPHA:641
Gaucher Disease Type 1	Proteinuria, Hematuria, Vertebral compression fracture, Kyphosis	ORPHA:77259
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Kyphosis	OMIM:618272
Kinsship Syndrome	Short palpebral fissure, Sacral dimple, Synophrys, Myoclonus, Long palpebral fissure, Spastic tet...	OMIM:619297
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Spastic tetraplegia, Myoclonus, Scoliosis, Clonus	OMIM:619055
Dyskeratosis Congenita, Digenic	Abnormality of skin pigmentation, Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the ...	OMIM:620040
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Gait ataxia, Impaired distal vibration sensation, Progressive gait ataxia, Myoclonus, Ataxia, Bab...	OMIM:607459
Neuroleptic Malignant Syndrome	Chorea, Urinary incontinence, Acute kidney injury, Oculogyric crisis, Tremor, Proteinuria, Myoglo...	ORPHA:94093
Alg1-Cdg	Scoliosis, Kyphosis	ORPHA:79327
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	3-Methylglutaconic aciduria, Ataxia, Inguinal hernia, Hypospadias, Tremor, Intention tremor, Umbi...	OMIM:614052
Clark-Baraitser syndrome	Scoliosis, Kyphosis	OMIM:300602
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Hemivertebrae, Abnormal form...	ORPHA:2916
Diffuse Alveolar Hemorrhage	Proteinuria, Hematuria	ORPHA:90060
Congenital Sialidosis Type 2	Spasticity, Abnormality of the kidney, Myoclonus, Ataxia, Inguinal hernia, Dysmetria, Umbilical h...	ORPHA:93400
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Irritability, Emotional lability	OMIM:201100
Diastrophic Dysplasia	Kyphosis, Hypoplastic cervical vertebrae, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:628
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sparse eyebrow, Spasticity, Downslanted palpebral fissures, Epicanthus, Unilateral renal agenesis...	ORPHA:500150
Floating-Harbor Syndrome	Congenital posterior urethral valve, Long eyelashes, Inguinal hernia, Hypospadias, Short neck, Ky...	OMIM:136140
Xeroderma Pigmentosum, Complementation Group A	Hypermelanotic macule, Melanoma, Squamous cell carcinoma of the skin	OMIM:278700
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Gait imbalance, Myoclonus, Ataxia, Tremor, Scoliosis, Broad-based gait	ORPHA:98794
Spermatogenic Failure 77	Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia	OMIM:620103
Basal Cell Nevus Syndrome 1	Vertebral fusion, Vertebral wedging, Kyphoscoliosis, Scoliosis, Hemivertebrae, Orbital cyst	OMIM:109400
Tubulointerstitial Nephritis And Uveitis Syndrome	Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syndrome, Beta 2-microglobulinuria, Re...	ORPHA:91500
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Biconcave vertebral bodies, Thoracic kyphosis, Narrow vertebral interpedicular distance, Kyphosco...	OMIM:271510
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy	ORPHA:352447
Aymé-Gripp Syndrome	Downslanted palpebral fissures, Bilateral ptosis, Long eyelashes, Camptodactyly, Inguinal hernia,...	ORPHA:1272
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Pheochromocytoma	Elevated urinary norepinephrine, Proteinuria, Renal artery stenosis	OMIM:171300
Schaaf-Yang Syndrome	Kyphosis, Scoliosis, Inability to walk	OMIM:615547
Incontinentia Pigmenti	Spasticity, Scarring, Hemivertebrae, Kyphoscoliosis	OMIM:308300
Pyridoxal Phosphate-Responsive Seizures	Myoclonus, Unsteady gait, Hypertonia	ORPHA:79096
Autosomal Recessive Spondylocostal Dysostosis	Kyphosis, Vertebral segmentation defect, Spina bifida occulta, Abnormal intervertebral disk morph...	ORPHA:2311
Williams Syndrome	Functional abnormality of male internal genitalia, Epicanthus, Abnormality of the bladder, Spina ...	ORPHA:904
Cockayne Syndrome B	Kyphosis, Reduced subcutaneous adipose tissue, Ataxia, Tremor, Proteinuria, Loss of facial adipos...	OMIM:133540
Mercury Poisoning	Acute kidney injury, Tremor, Dystonia	ORPHA:330021
Kagami-Ogata Syndrome	Blepharophimosis, Inguinal hernia, Kyphoscoliosis, Short neck, Omphalocele	ORPHA:254519
Atkin-Flaitz Syndrome	Scoliosis, Kyphosis	OMIM:300431
Aicardi-Goutières Syndrome	Spasticity, Abnormal pyramidal sign, Multiple joint contractures, Spastic tetraplegia, Abnormalit...	ORPHA:51
Gm1-Gangliosidosis, Type I	Kyphosis, Hypoplastic vertebral bodies, Short neck, Scoliosis, Hypertonia, Beaking of vertebral b...	OMIM:230500
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Wrist flexion contracture, Flexion contracture, Elbow flexion contracture, Flexion contracture of...	ORPHA:206549
Frank-Ter Haar Syndrome	Downslanted palpebral fissures, Kyphosis, Anterior concavity of thoracic vertebrae, Camptodactyly...	OMIM:249420
Peho Syndrome	Myoclonus, Epicanthus	OMIM:260565
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Myoclonus, Hypertonia	ORPHA:289266
Hyperekplexia 1	Exaggerated startle response, Myoclonus, Inguinal hernia, Frequent falls, Hypertonia, Umbilical h...	OMIM:149400
Desbuquois Dysplasia 1	Hyperlordosis, Kyphosis, Short neck, Scoliosis, Platyspondyly, Waddling gait	OMIM:251450
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Irregular menstruation, Stage 5 chronic kidney disease, Enlarged kidney, Xanthelasma, Menorrhagia...	ORPHA:79259
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Gait ataxia, Myoclonus, Positive Romberg sign, Ptosis, Impaired distal proprioception, Impaired v...	ORPHA:70595
Trisomy 9P	Sacral dimple, Short neck, Scoliosis, Kyphosis	ORPHA:236
Developmental And Epileptic Encephalopathy 101	Opisthotonus, Limb joint contracture, Myoclonus	OMIM:619814
Angelman Syndrome	Inability to walk, Myoclonus, Ataxia, Ptosis, Tremor, Scoliosis, Broad-based gait, Delayed menarche	ORPHA:72
Sandifer Syndrome	Abnormal posturing, Torticollis	ORPHA:71272
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Irregular menstruation, Renal tubular acidosis, Oligomenorrhea, Dysmenorrhea, Myoglobinuria	ORPHA:370
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Renal tubular acidosis, Oligomenorrhea, Dysmenorrhea, Myoglobinuria	ORPHA:79240
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Abnormality of extrapyramidal motor function, Spasticity, Ataxia, Myoclonus	OMIM:614299
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin, Numerous pigmented freckles	ORPHA:220295
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Downslanted palpebral fissures, Epicanthus, Pseudobulbar paralysis, Ataxia, Kyphoscoliosis, Upsla...	ORPHA:466791
Disorder Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Short neck, Kyphosis	ORPHA:2983
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly	ORPHA:2655
Paroxysmal Nocturnal Hemoglobinuria	Impotence, Acute kidney injury, Hemoglobinuria, Glycosuria, Conjunctival icterus, Proteinuria, He...	ORPHA:447
Adenylosuccinase Deficiency	Gait ataxia, Spasticity, Inability to walk, Myoclonus, Hemiplegia, Opisthotonus	OMIM:103050
Alexander Disease	Chorea, Hyperlordosis, Spasticity, Abnormal pyramidal sign, Tetraplegia, Kyphosis, Gait disturban...	ORPHA:58
Fucosidosis	Anterior beaking of lumbar vertebrae, Spasticity, Abnormal pyramidal sign, Kyphosis, Spastic tetr...	ORPHA:349
Kniest Dysplasia	Hip contracture, Gait disturbance, Inguinal hernia, Coronal cleft vertebrae, Short neck, Platyspo...	OMIM:156550
Hermansky-Pudlak Syndrome	Hypopigmentation of the skin, Melanocytic nevus, Squamous cell carcinoma of the skin, Ocular albi...	ORPHA:79430
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Hyperekplexia 3	Exaggerated startle response, Hiatus hernia, Myoclonus, Hypertonia	OMIM:614618
47,Xyy Syndrome	Azoospermia, Oligospermia, Hypospadias, Male infertility, Micropenis	ORPHA:8
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Aminoaciduria, Enamel hypoplasia, Joint contracture of the hand, Keloids...	OMIM:309000
Stickler Syndrome, Type I	Kyphosis, Spondylolisthesis, Scoliosis, Platyspondyly, Beaking of vertebral bodies, Morbus Scheue...	OMIM:108300
Ullrich Congenital Muscular Dystrophy 1	Spinal rigidity, Torticollis, Scoliosis, Kyphosis	OMIM:254090
Fanconi Anemia, Complementation Group A	Renal agenesis, Ectopic kidney, Duplicated collecting system, Male infertility, Hypergonadotropic...	OMIM:227650
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Developmental Malformations-Deafness-Dystonia Syndrome	Scoliosis, Kyphosis	ORPHA:79107
Progressive Non-Infectious Anterior Vertebral Fusion	Kyphosis, Spinal rigidity, Abnormal intervertebral disk morphology, Scoliosis, Abnormality of the...	ORPHA:2062
Sponastrime Dysplasia	Biconcave vertebral bodies, Epicanthus, Hyperconvex vertebral body endplates, Hypospadias, Kyphos...	ORPHA:93357
Cono-Spondylar Dysplasia	Poor coordination, Short neck, Scoliosis, Kyphosis	ORPHA:420794
Hyperekplexia 2	Exaggerated startle response, Hiatus hernia, Myoclonus, Hypertonia	OMIM:614619
Late Infantile Neuronal Ceroid Lipofuscinosis	Cortical myoclonus, Spasticity, Inability to walk, Myoclonus, Gait disturbance, Ataxia	ORPHA:168491
Pmm2-Cdg	Upslanted palpebral fissure, Multiple joint contractures, Nephrotic syndrome, Epicanthus, Abnorma...	ORPHA:79318
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Limb hypertonia, Spastic tetraplegia	OMIM:619909
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	3-Methylglutaconic aciduria, Myoclonus, Paralysis, Ataxia, Tetraparesis, Aciduria, Hypertonia, Sc...	OMIM:203700
Wrinkly Skin Syndrome	Downslanted palpebral fissures, Epicanthus, Inguinal hernia, Slurred speech, Lipodystrophy, Kypho...	ORPHA:2834
Early Infantile Epileptic Encephalopathy	Spasticity, Renal dysplasia, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Ureterocele, Dy...	ORPHA:1934
Autosomal Dominant Hypocalcemia	Cortical myoclonus, Paresthesia, Writer's cramp, Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria	ORPHA:428
Granulomatosis With Polyangiitis	Glomerulopathy, Prostatitis, Hematuria, Hemiplegia, Ureteral stenosis, Proteinuria, Renal insuffi...	ORPHA:900
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Myoclonus	OMIM:619060
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Renal tubular acidosis, Oligomenorrhea, Dysmenorrhea, Myoglobinuria	ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 27	Chorea, Myoclonus, Tetraparesis, Opisthotonus, Dystonia	OMIM:616672
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Kyphosis, Scoliosis, Sacral dimple	OMIM:618291
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Red-brown urine	ORPHA:228305
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Stage 5 chronic kidney disease, Hematuria, Nephropathy, Proteinuria, Chronic kidney disease	ORPHA:1018
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Hyperphosphaturia, Abnormal tubulointerstitial morphology, Low-molecul...	ORPHA:411629
Early-Onset Autosomal Dominant Alzheimer Disease	Parkinsonism, Apraxia, Oculomotor apraxia, Myoclonus, Ataxia, Hypertonia	ORPHA:1020
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Flexion contracture, Irregular vertebral endplates, Kyphoscoliosis, Short neck, Paraplegia, Ovoid...	OMIM:271640
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Myoclonus	OMIM:614946
Poliomyelitis	Paresthesia, Inability to walk, Paraparesis, Paralysis, Hyperkinetic movements, Fasciculations	ORPHA:2912
Hellp Syndrome	Acute kidney injury, Hemoglobinuria, Proteinuria, Back pain	ORPHA:244242
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Glycosuria, Babinski sign, Tremor, Hypertonia, Renal tubular dysfunction	OMIM:616539
Japanese Encephalitis	Opisthotonus, Respiratory paralysis, Abnormality of extrapyramidal motor function, Myoclonus, Cho...	ORPHA:79139
Pgm3-Cdg	Cortical myoclonus, Myoclonus, Narrow palpebral fissure, Membranoproliferative glomerulonephritis...	ORPHA:443811
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic kidney disease	OMIM:208500
Amyotrophy, Monomelic	Fasciculations	OMIM:602440
Rett Syndrome, Congenital Variant	Chorea, Spasticity, Kyphosis, Apraxia, Scoliosis, Athetosis	OMIM:613454
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Gaucher Disease Type 3	Gait disturbance, Proteinuria, Hematuria, Ataxia	ORPHA:77261
Familial Mediterranean Fever	Nephrotic syndrome, Nephropathy, Orchitis, Nephrocalcinosis, Proteinuria	ORPHA:342
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Downslanted palpebral fissures, Sparse lateral eyebrow, Myoclonus, Ptosis, Telecanthus, Speech ap...	ORPHA:314655
African Trypanosomiasis	Conjunctivitis, Urinary incontinence, Somatic sensory dysfunction, Paresthesia, Impotence, Akines...	ORPHA:3385
Otopalatodigital Syndrome, Type Ii	Downslanted palpebral fissures, Spondylolysis, Elbow contracture, Hypospadias, Short neck, Kyphos...	OMIM:304120
Dyggve-Melchior-Clausen Disease	Kyphosis, Thoracic kyphosis, Hypoplasia of the odontoid process, Waddling gait, Short neck, Scoli...	OMIM:223800
Urban-Rogers-Meyer Syndrome	Short neck, Kyphosis	ORPHA:3409
Achondroplasia	Kyphosis, Spinal canal stenosis, Cervical spinal canal stenosis, Thoracolumbar kyphosis, Lumbar h...	ORPHA:15
Acquired Generalized Lipodystrophy	Proteinuria, Generalized lipodystrophy, Panniculitis	ORPHA:79086
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis	OMIM:608776
Spondylometaphyseal Dysplasia, Algerian Type	Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly	OMIM:184253
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Male infertility, Abnormal renal morphology, Obstructive azoospermia	ORPHA:48
Marfanoid Habitus With Situs Inversus	Scoliosis, Kyphosis	OMIM:609008
Mucopolysaccharidosis, Type Vii	Anterior beaking of lumbar vertebrae, Kyphosis, Hypoplasia of the odontoid process, Short neck, S...	OMIM:253220
Cutis Laxa, Autosomal Recessive, Type Iic	Knee flexion contracture, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Entropion	OMIM:617402
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Spasticity, Gait imbalance, Spastic diplegia, Kyphosis, Gait disturbance, Ataxia, ...	OMIM:300966
Pearson Syndrome	Glycosuria, Ataxia, Lacticaciduria, Renal cyst, Ptosis, Proteinuria, Renal insufficiency	ORPHA:699
Osteogenesis Imperfecta, Type Iii	Biconcave vertebral bodies, Scoliosis, Kyphosis	OMIM:259420
Tick-Borne Encephalitis	Somatic sensory dysfunction, Back pain, Paralysis, Tongue fasciculations, Incoordination, Tremor,...	ORPHA:297
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, Myoclonus	OMIM:300673
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly	ORPHA:93274
Pierson Syndrome	Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Hyp...	OMIM:609049
Pelger-Huet Anomaly	Kyphosis, Lower limb hypertonia	OMIM:169400
Pontocerebellar Hypoplasia Type 7	Spasticity, Absent penis, Microphallus, Epicanthus, Myoclonus, Hypertonia, Involuntary movements,...	ORPHA:284339
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Flexion contracture, Postural tremor, Truncal ataxia, Myoclonus, Ataxia, Babinski sig...	OMIM:301072
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Ketonuria, Myoclonus, Ataxia, Spastic hemiparesis, 3-Methylglutaric aciduria	ORPHA:20
Marfan Syndrome	Downslanted palpebral fissures, Flexion contracture, Reduced subcutaneous adipose tissue, Incisio...	OMIM:154700
Dyskeratosis Congenita, Autosomal Dominant 1	Reticular hyperpigmentation, Squamous cell carcinoma of the skin, Premature graying of hair, Myel...	OMIM:127550
Ruvalcaba Syndrome	Scoliosis, Abnormality of vertebral epiphysis morphology, Kyphosis	ORPHA:3121
Glycogen Storage Disease Xii	Hemoglobinuria, Short neck, Ptosis, Epicanthus	OMIM:611881
Congenital Fiber-Type Disproportion Myopathy	Knee flexion contracture, Hyperlordosis, Flexion contracture, Hip contracture, Elbow flexion cont...	ORPHA:2020
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperlordosis, Scoliosis, Kyphosis	OMIM:617821
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased fertility, Irregular menstruation, Increased urinary 11-deoxycorticosterone level, Male...	ORPHA:90793
Fountain Syndrome	Spina bifida occulta, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Gait ataxia, Chorea, Spastic tetraplegia, Myoclonus, Ataxia, Generalized dystonia, Dystonia	OMIM:618321
Unilateral Polymicrogyria	Poor fine motor coordination, Abnormal posturing, Spastic tetraplegia, Hemiparesis, Pseudobulbar ...	ORPHA:268943
Developmental And Epileptic Encephalopathy 100	Gait ataxia, Chorea, Short palpebral fissure, Bilateral camptodactyly, Enamel hypoplasia, Synophr...	OMIM:619777
Osteoporosis-Pseudoglioma Syndrome	Biconcave vertebral bodies, Severe platyspondyly, Kyphosis, Kyphoscoliosis, Scoliosis, Platyspond...	OMIM:259770
Orofaciodigital Syndrome Iii	Myoclonus, Kyphosis	OMIM:258850
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Tremor, Pain insensitivity, Scoliosis, Kyphosis	OMIM:617061
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis	ORPHA:3082
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short palpebral fissure, Flexion contracture, Epicanthus, Blepharophimosis, Camptodactyly, Hernia...	ORPHA:96334
Choreoacanthocytosis	Chorea, Blepharospasm, Falls, Resting tremor, Parkinsonism, Lingual dystonia, Limb dystonia, Poor...	ORPHA:2388
Shashi-Pena Syndrome	Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypertonia	OMIM:617190
Spermatogenic Failure 14	Male infertility, Azoospermia, Late spermatogenesis maturation arrest	OMIM:615842
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia	OMIM:618086
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Scoliosis, Ataxia	ORPHA:2479
Fabry Disease	Glomerulopathy, Nephrotic syndrome, Abnormal renal tubule morphology, Hematuria, Nephropathy, Con...	ORPHA:324
Trisomy 20P	Kyphosis, Vertebral segmentation defect, Gait disturbance, Incoordination, Short neck, Scoliosis,...	ORPHA:261318
Partial Androgen Insensitivity Syndrome	Urogenital sinus anomaly, Perineal hypospadias, Azoospermia, Male sexual dysfunction, Hypospadias...	ORPHA:90797
Bardet-Biedl Syndrome 20	Male hypogonadism, Proteinuria, Micropenis	OMIM:619471
Listeriosis	Conjunctivitis, Somatic sensory dysfunction, Back pain, Acute kidney injury, Hemiparesis, Myoclon...	ORPHA:533
Infantile Krabbe Disease	Spasticity, Ankle clonus, Spastic diplegia, Myoclonus, Hyperesthesia, Lower limb spasticity, Opis...	ORPHA:206436
3M Syndrome	Hyperlordosis, Increased vertebral height, Kyphosis, Short neck, Scoliosis	ORPHA:2616
Branchioskeletogenital Syndrome	Downslanted palpebral fissures, Blepharochalasis, Abnormality of the cervical spine, Abnormality ...	ORPHA:1299
Orofaciodigital Syndrome I	Downslanted palpebral fissures, Enamel hypoplasia, Epicanthus, Polycystic kidney dysplasia, Prote...	OMIM:311200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria	OMIM:201475
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Kyphosis	OMIM:617143
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux	OMIM:619377
Gaucher Disease	Oculomotor apraxia, Abnormality of extrapyramidal motor function, Hemiplegia/hemiparesis, Hematur...	ORPHA:355
Microphthalmia, Syndromic 1	Spastic diplegia, Joint contracture of the hand, Renal hypoplasia/aplasia, Hydroureter, Camptodac...	OMIM:309800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria, Conjunctival icterus	OMIM:194380
Osteogenesis Imperfecta, Type Iv	Scoliosis, Kyphosis, Biconcave flattened vertebrae	OMIM:166220
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Increased intervertebral space, Abnormality of the cervical spine, Severe platyspo...	ORPHA:508533
Postinfectious Vasculitis	Hematuria, Membranoproliferative glomerulonephritis, Glomerulonephritis, Orchitis, Proteinuria	ORPHA:48435
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Scoliosis, Kyphosis	OMIM:615381
45,X/46,Xy Mixed Gonadal Dysgenesis	Urogenital sinus anomaly, Epicanthus, Abnormality of the kidney, Azoospermia, Epispadias, Hypospa...	ORPHA:1772
Cog8-Cdg	Myoclonus, Ataxia	ORPHA:95428
15Q14 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:261190
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypopigmentation of the skin, Squamous cell carcinoma of the skin, Depigmentation/hyperpigmentati...	ORPHA:79396
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Kyphosis, Unsteady gait, Scoliosis, Inability to walk	OMIM:618493
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Immotile sperm	OMIM:613807
15Q24 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:94065
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Ataxia, Dysmetria, Head titubation, Intention tremor	OMIM:619708
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Spasticity, Myoclonus	OMIM:612949
Spondyloarthropathy, Susceptibility To, 1	Sacroiliac arthritis, Back pain, Kyphosis	OMIM:106300
Lmna-Related Cardiocutaneous Progeria Syndrome	Squamous cell carcinoma of the skin, Premature graying of hair, Papillary renal cell carcinoma, B...	ORPHA:363618
Lateral Meningocele Syndrome	Hyperlordosis, Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2789
Pallister-Killian Syndrome	Flexion contracture, Inability to walk, Epicanthus, Renal dysplasia, Short neck, Hypertonia, Spar...	OMIM:601803
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Kyphosis	ORPHA:261144
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Emanuel Syndrome	Sacral dimple, Torticollis, Scoliosis, Kyphosis	OMIM:609029
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Scoliosis, Proteinuria, Hiatus hernia	OMIM:616682
Dysostosis, Stanescu Type	Hyperlordosis, Short neck, Scoliosis, Kyphosis	ORPHA:1798
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb hypertonia, Neurogenic bladder, Cerebral palsy, Limb dystonia, Myoclonus, Inability to walk,...	OMIM:616973
Whipple Disease	Ataxia, Myoclonus, Abnormal pyramidal sign, Erectile dysfunction	ORPHA:3452
Coffin-Lowry Syndrome	Kyphosis, Progressive spasticity, Gait disturbance, Scoliosis, Hypertonia, Abnormal form of the v...	ORPHA:192
Trisomy 13	Scoliosis, Kyphosis	ORPHA:3378
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Kyphosis	OMIM:603387
Hyperglycinemia, Lactic Acidosis, And Seizures	Myoclonus, Joint contracture, Spastic tetraplegia	OMIM:614462
Cog1-Cdg	Downslanted palpebral fissures, Vertebral segmentation defect, Butterfly vertebrae, Kyphoscoliosi...	ORPHA:263508
Postpoliomyelitis Syndrome	Fasciculations	ORPHA:2942
Tsh-Secreting Pituitary Adenoma	Irregular menstruation, Decreased fertility in females, Female hypogonadism, Impotence, Hypogonad...	ORPHA:91347
Acro-Renal-Mandibular Syndrome	Kyphosis, Butterfly vertebrae, Short neck, Scoliosis, Hemivertebrae	ORPHA:958
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria	OMIM:609015
Cowden Syndrome 5	Scoliosis, Intention tremor, Kyphosis	OMIM:615108
3C Syndrome	Hemivertebrae, Short neck, Scoliosis, Kyphosis	ORPHA:7
Goodpasture Syndrome	Glomerular crescent formation, Cylindruria, Glomerulonephritis, Erythrocyte cylindruria, Macrosco...	OMIM:233450
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
19P13.12 Microdeletion Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:254346
Imerslund-Gräsbeck Syndrome	Proteinuria	ORPHA:35858
Pycnodysostosis	Hyperlordosis, Spondylolysis, Kyphosis, Upper motor neuron dysfunction, Spondylolisthesis, Scoliosis	ORPHA:763
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Abnormal pyramidal sign, Kyphosis, Rigidity, Abnormality of extrapy...	OMIM:617527
Relapsing Polychondritis	Conjunctivitis, Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency	ORPHA:728
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Vertebral segmentation defect, Scoliosis, Kyphosis	ORPHA:1005
Harrod Syndrome	Scoliosis, Kyphosis	ORPHA:2115
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	ORPHA:71212
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Vesicoureteral reflux, Exaggerated startle response, Inability to walk, Myoclonus, Almond-shaped ...	ORPHA:438213
Vici Syndrome	Failure to thrive, Abnormal posturing	OMIM:242840
Mucopolysaccharidosis Type 6	Short neck, Ovoid vertebral bodies, Kyphosis	ORPHA:583
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Scoliosis, Kyphosis	OMIM:616449
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic tetraplegia, White eyelashes, Torticollis, Myoclonus, White eyebrow, Ataxia, ...	OMIM:609136
Micro Syndrome	Spasticity, Scoliosis, Kyphosis	ORPHA:2510
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly	ORPHA:1860
Sandhoff Disease, Infantile Form	Spasticity, Exaggerated startle response, Myoclonus	ORPHA:309155
Cowden Syndrome 6	Scoliosis, Intention tremor, Kyphosis	OMIM:615109
Marden-Walker Syndrome	Short neck, Scoliosis, Kyphosis	OMIM:248700
Developmental And Epileptic Encephalopathy 2	Myoclonus, Scoliosis, Inability to walk	OMIM:300672
46,Xy Partial Gonadal Dysgenesis	Decreased fertility in females, Nephroblastoma, Urogenital sinus anomaly, Nephrotic syndrome, Azo...	ORPHA:251510
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Scoliosis, Kyphosis	ORPHA:404440
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Blepharophimosis, Myoclonus, Upslanted palpebral fissure	ORPHA:1352
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaconic aciduria, Tremor, Hypertonia, Clonus, 3-Methylglutaric aciduria, Dystonia	OMIM:617248
Holt-Oram Syndrome	Scoliosis, Kyphosis	ORPHA:392
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria	OMIM:300908
Spondyloperipheral Dysplasia	Irregular vertebral endplates, Kyphosis, Short neck, Ovoid vertebral bodies, Platyspondyly	OMIM:271700
Ring Chromosome 7 Syndrome	Downslanted palpebral fissures, Hypogonadism, Epicanthus, Bilateral ptosis, Hypospadias, Unilater...	ORPHA:1449
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Koolen-De Vries Syndrome	Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis	ORPHA:96169
Hurler-Scheie Syndrome	Scoliosis, Kyphosis	OMIM:607015
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Limb hypertonia, Kyphosis, Rigidity, Abnormality of extrapyramidal ...	ORPHA:521426
Lateral Meningocele Syndrome	Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Short neck, Scoliosis	OMIM:130720
2P15P16.1 Microdeletion Syndrome	Kyphosis, Gait disturbance, Scoliosis, Lower limb spasticity	ORPHA:261349
Infection-Related Hemolytic Uremic Syndrome	Nephrotic range proteinuria, Anuria, Acute kidney injury, Hemiparesis, Decreased urine output, Ol...	ORPHA:544482
Genitopalatocardiac Syndrome	Scoliosis, Kyphosis	ORPHA:2075
Triosephosphate Isomerase Deficiency	Spasticity, Unsteady gait, Tremor, Kyphosis	OMIM:615512
Farber Disease	Spasticity, Flexion contracture, Abnormal conjunctiva morphology, Paraparesis, Myoclonus	ORPHA:333
16P13.2 Microdeletion Syndrome	Gait disturbance, Scoliosis, Kyphosis	ORPHA:500055
Insulin-Resistance Syndrome Type B	Glycosuria, Proteinuria, Nephritis	ORPHA:2298
Sotos Syndrome	Flexion contracture, Congenital posterior urethral valve, Decreased fertility, Vesicoureteral ref...	ORPHA:821
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Kyphosis, Lumbar hyperlordosis	OMIM:616482
Weaver Syndrome	Poor fine motor coordination, Spasticity, Kyphosis, Slurred speech, Scoliosis, Hypertonia	OMIM:277590
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Myoglobinuria	ORPHA:423
Cowden Syndrome 1	Scoliosis, Intention tremor, Kyphosis	OMIM:158350
Pituitary Adenoma 4, Acth-Secreting	Biconcave vertebral bodies, Vertebral compression fracture, Kyphosis	OMIM:219090
Crimean-Congo Hemorrhagic Fever	Conjunctivitis, Hematuria, Orchitis, Proteinuria, Fasciculations	ORPHA:99827
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Ovoid vertebral bodies, Platyspondyly, Thoracic...	OMIM:618019
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Myoclonus, Paralysis	ORPHA:83601
Neurofibroma	Kyphoscoliosis, Spinal canal stenosis	ORPHA:252183
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis	OMIM:177850
Bloom Syndrome	Nephroblastoma, Recurrent urinary tract infections, Premature ovarian insufficiency, Azoospermia,...	ORPHA:125
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Scoliosis, Kyphosis	ORPHA:140
Multiple Pterygium Syndrome, Escobar Variant	Thoracolumbar scoliosis, Kyphosis, Anterior clefting of vertebral bodies, Fused cervical vertebra...	OMIM:265000
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Kyphosis, Inability to walk, Scoliosis, Difficulty walking	ORPHA:464738
Kawasaki Disease	Conjunctivitis, Ptosis, Sterile pyuria, Proteinuria	ORPHA:2331
Hurler Syndrome	Biconcave vertebral bodies, Kyphosis, Hypoplasia of the odontoid process, Short neck, C1-C2 sublu...	OMIM:607014
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Scoliosis, Kyphosis	OMIM:619951
Microphthalmia, Lenz Type	Hyperlordosis, Scoliosis, Kyphosis	ORPHA:568
Androgen Insensitivity Syndrome	Inguinal hernia, Male infertility	ORPHA:754
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Gait ataxia, Hyperlordosis, Scoliosis, Kyphosis	OMIM:617011
Schwartz-Jampel Syndrome	Hyperlordosis, Blepharospasm, Kyphosis, Spinal rigidity, Gait disturbance, Abnormally straight sp...	ORPHA:800
Doors Syndrome	Lumbar scoliosis, Bilateral ptosis, Epicanthus, Increased urine alpha-ketoglutarate concentration...	ORPHA:79500
Multiple Pterygium-Malignant Hyperthermia Syndrome	Scoliosis, Kyphosis	ORPHA:2215
Koolen-De Vries Syndrome	Sacral dimple, Vertebral fusion, Kyphosis, Spondylolisthesis, Scoliosis	OMIM:610443
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Hemoglobinuria, Anuria	ORPHA:90038
Osteogenesis Imperfecta, Type Viii	Vertebral compression fracture, Scoliosis, Kyphosis, Platyspondyly	OMIM:610915
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Irregular vertebral endplates, Kyphosis, Posterior scalloping of vertebral bodies, Gait disturban...	ORPHA:3042
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal...	ORPHA:1724
Intellectual Developmental Disorder, Autosomal Dominant 57	Tip-toe gait, Scoliosis, Kyphosis	OMIM:618050
Alstrom Syndrome	Scoliosis, Kyphosis	OMIM:203800
16Q24.3 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:261250
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Abnormality of the curvature of the vertebral column, Spasticity, Back pain, Tip-toe gait, Falls,...	OMIM:619475
Congenital Heart Defects And Skeletal Malformations Syndrome	Scoliosis, Kyphosis	OMIM:617602
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Scoliosis, Kyphosis	OMIM:619557
Noonan Syndrome 14	Short neck, Kyphosis	OMIM:619745
Distal Tetrasomy 15Q	Scoliosis, Kyphosis	ORPHA:314588
Prader-Willi Syndrome	Poor fine motor coordination, Kyphosis, Impaired pain sensation, Poor gross motor coordination, S...	OMIM:176270
Mucopolysaccharidosis, Type Ii	Short neck, Kyphosis	OMIM:309900
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Camurati-Engelmann Disease	Hyperlordosis, Kyphosis, Ataxia, Scoliosis, Abnormality of the vertebral column, Waddling gait	ORPHA:1328
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Scoliosis, Kyphosis	OMIM:162300
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Scoliosis, Kyphosis	ORPHA:398069
2Q31.1 Microdeletion Syndrome	Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis	ORPHA:251014
Wolf-Hirschhorn Syndrome	Sacral dimple, Kyphosis, Abnormal vertebral morphology, Ataxia, Scoliosis, Abnormality of the ver...	ORPHA:280
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hemivertebrae, Short neck, Scoliosis, Kyphosis	OMIM:618223
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Scoliosis, Kyphosis	OMIM:619718
Cohen Syndrome	Scoliosis, Kyphosis	ORPHA:193
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Scoliosis, Kyphosis	OMIM:619005
Osteogenesis Imperfecta	Somatic sensory dysfunction, Biconcave vertebral bodies, Paresthesia, Kyphosis, Cervical kyphosis...	ORPHA:666
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Difficulty walking, Kyphosis	OMIM:619482
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Scoliosis, Kyphosis	ORPHA:1969
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Lafora Disease	Spasticity, Erratic myoclonus, Inability to walk, Myoclonus, Gait disturbance, Ataxia	ORPHA:501
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Scoliosis, Kyphosis	OMIM:616894
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of the cervical spine, Gait disturbance, Scoliosis, Kyphosis	ORPHA:464311
Opsoclonus-Myoclonus Syndrome	Rigidity, Limb myoclonus, Ataxia, Myoclonus	ORPHA:1183
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis	OMIM:616914
Classic Homocystinuria	Hemiplegia/hemiparesis, Scoliosis, Kyphosis	ORPHA:394
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Mgat2-Cdg	Scoliosis, Kyphosis	ORPHA:79329
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Shprintzen Omphalocele Syndrome	Scoliosis, Kyphosis, Lumbar hyperlordosis	OMIM:182210
Dyrk1A-Related Intellectual Disability Syndrome	Abnormality of the cervical spine, Gait disturbance, Scoliosis, Kyphosis	ORPHA:464306
Cdags Syndrome	Kyphosis	OMIM:603116
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Kyphosis, Short neck, Scoliosis, Hypertonia	OMIM:619194
Nmda Receptor Encephalitis	Chorea, Rigidity, Myoclonus, Choreoathetosis, Oculogyric crisis, Involuntary movements, Opisthoto...	ORPHA:217253
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Kyphosis, Gait disturbance, Ataxia, Scoliosis, Hypertonia, Broad-based gait	ORPHA:268261
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Ataxia, Spasticity, Hypertonia, Myoclonus	OMIM:618426
Aspartylglucosaminuria	Spasticity, Spondylolysis, Kyphosis, Spondylolisthesis, Scoliosis, Platyspondyly, Beaking of vert...	OMIM:208400
Monosomy 9Q22.3	Abnormality of the vertebral column, Short neck, Kyphosis	ORPHA:77301
Cockayne Syndrome Type 3	Kyphosis, Scoliosis, Difficulty walking, Unsteady gait, Intention tremor	ORPHA:90324
Autosomal Recessive Robinow Syndrome	Sacral dimple, Kyphosis, Vertebral segmentation defect, Short neck, Scoliosis	ORPHA:1507
Myoclonic Epilepsy Of Lafora	Apraxia, Myoclonus, Gait disturbance	OMIM:254780
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Hyperlordosis, Kyphosis, Spondylolisthesis, Scoliosis, Cervical spinal canal steno...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Hyperlordosis, Kyphosis, Spondylolisthesis, Scoliosis, Cervical spinal canal steno...	ORPHA:363958
Hajdu-Cheney Syndrome	Biconcave vertebral bodies, Kyphosis, Short neck, Scoliosis, Hypoplastic 5th lumbar vertebrae	ORPHA:955
Smith-Lemli-Opitz Syndrome	Kyphosis, Short neck, Scoliosis, Hypertonia, Abnormal form of the vertebral bodies	ORPHA:818
Mend Syndrome	Sacral dimple, Kyphosis, Hypertonia	OMIM:300960
Mend Syndrome	Sacral dimple, Kyphosis, Limb hypertonia	ORPHA:401973
Cowden Syndrome	Kyphosis, Scoliosis, Ataxia	ORPHA:201
Cleidocranial Dysplasia 1	Spondylolysis, Scoliosis, Kyphosis, Spondylolisthesis	OMIM:119600
Cystic Fibrosis	Male infertility, Hypercalciuria	OMIM:219700
Poland Syndrome	Kyphosis, Vertebral segmentation defect, Spina bifida occulta, Short neck, Scoliosis, Hemivertebrae	ORPHA:2911
Marden-Walker Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2461
Mucolipidosis Type Ii	Kyphosis, Inability to walk	ORPHA:576
Aromatase Deficiency	Female infertility, Male infertility, Hypergonadotropic hypogonadism, Primary amenorrhea	ORPHA:91
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T11, Kyphosis, Hypoplasia of the odontoid process, Waddling gait, Platyspondy...	OMIM:300106
Ramon Syndrome	Scoliosis, Kyphosis	OMIM:266270
Zttk Syndrome	Spasticity, Hemivertebrae, Scoliosis, Kyphosis	OMIM:617140
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis	ORPHA:2232
Stickler Syndrome	Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Scoliosis, Platyspondyly, Abnormal form ...	ORPHA:828
Neurofibromatosis Type 1	Kyphosis, Paresthesia, Scoliosis, Ataxia	ORPHA:636
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Myoclonus, Dystonia, Tetraplegia	OMIM:618278
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Acromegaly	Kyphosis, Paresthesia, Cerebral palsy, Spinal canal stenosis	ORPHA:963
Somatomammotropinoma	Kyphosis, Paresthesia, Cerebral palsy, Spinal canal stenosis	ORPHA:314769
Occipital Horn Syndrome	Scoliosis, Kyphosis, Platyspondyly	ORPHA:198
Lenz-Majewski Hyperostotic Dwarfism	Scoliosis, Kyphosis	ORPHA:2658
1P36 Deletion Syndrome	Kyphosis, Hemiplegia/hemiparesis, Gait disturbance, Spinal canal stenosis, Scoliosis	ORPHA:1606
Neutral Lipid Storage Myopathy	Difficulty walking, Fasciculations	ORPHA:98908
Occipital Horn Syndrome	Kyphosis, Platyspondyly	OMIM:304150
Cerebrocostomandibular Syndrome	Kyphosis	ORPHA:1393
Marfan Syndrome	Spondylolisthesis, Scoliosis, Kyphosis	ORPHA:558
Coffin-Siris Syndrome 1	Gait ataxia, Sacral dimple, Kyphosis, Spina bifida occulta, Scoliosis	OMIM:135900
Wolf-Hirschhorn Syndrome	Sacral dimple, Vertebral fusion, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	OMIM:194190
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Meningioma, Spinal cord tumor, Neoplasm, Pilomatrixoma	ORPHA:353281
Coffin-Lowry Syndrome	Lumbar kyphosis, Scoliosis, Kyphosis	OMIM:303600
17Q11 Microdeletion Syndrome	Kyphosis, Beaking of vertebral bodies T12-L3, Abnormal central motor function, Scoliosis, Abnorma...	ORPHA:97685
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the vertebral column, Abnormal vertebral morphology, Kyphosis, Platyspondyly	ORPHA:2273
Turner Syndrome Due To Structural X Chromosome Anomalies	Short neck, Scoliosis, Kyphosis	ORPHA:99413
Mosaic Monosomy X	Short neck, Scoliosis, Kyphosis	ORPHA:99228
Monosomy X	Short neck, Scoliosis, Kyphosis	ORPHA:99226
Turner Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:881
Tetrasomy 9P	Pilomatrixoma	ORPHA:3310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Myoclonus	OMIM:253280
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Meningioma, Pilomatrixoma	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Meningioma, Pilomatrixoma	ORPHA:353277
Proteus Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:744
Wrinkly Skin Syndrome	Scoliosis, Kyphosis	OMIM:278250
Primrose Syndrome	Kyphosis, Irregular vertebral endplates, Ataxia, Posterior scalloping of vertebral bodies	OMIM:259050
Viss Syndrome	Butterfly vertebrae, Scoliosis, Kyphosis	OMIM:619472
Branchiooculofacial Syndrome	Hyperlordosis, Short neck, Kyphosis	OMIM:113620
Yunis-Varon Syndrome	Anterior concavity of thoracic vertebrae, Kyphosis	OMIM:216340
Alström Syndrome	Poor fine motor coordination, Somatic sensory dysfunction, Lumbar scoliosis, Kyphosis, Incoordina...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Grm1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Grm1.

No publications found that use IMPC mice or data for Grm1.

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MGI Allele	Allele Type	Produced
Grm1^em2(IMPC)H	Exon Deletion	Mice
Grm1^{tm47852(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Grm1^em1H	Point Mutation	Mice

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