Gene Summary

Name:
neurexin II
Synonyms:
neurexin II beta,  6430591O13Rik,  neurexin II alpha

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Nrxn2em1(IMPC)H HOM   Early adult 4.31×10-05
increased circulating total protein level Nrxn2em1(IMPC)H HOM Early adult 3.74×10-07
increased lean body mass Nrxn2em1(IMPC)H HOM   Late adult 6.78×10-05
trunk curl Nrxn2em1(IMPC)H HOM Early adult 6.64×10-06
decreased locomotor activity Nrxn2em1(IMPC)H HOM Early adult 2.56×10-05
increased blood urea nitrogen level Nrxn2em1(IMPC)H HOM Early adult 2.34×10-12
increased circulating cholesterol level Nrxn2em1(IMPC)H HOM Early adult 1.29×10-08
increased circulating triglyceride level Nrxn2em1(IMPC)H HOM Early adult 8.21×10-10
hyperactivity Nrxn2em1(IMPC)H HOM   Late adult 8.36×10-06
tremors Nrxn2em1(IMPC)H HOM Late adult 4.76×10-05
enlarged heart Nrxn2em1(IMPC)H HOM Late adult 0.00

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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.

Echo

M-Mode Images

84 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Nrxn2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nrxn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 25
Delayed speech and language development, Anxiety OMIM:614346
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Intellectual Developmental Disorder, X-Linked 63
Delayed speech and language development, Anxiety OMIM:300387
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior, Absent speech OMIM:607417
Familial Alzheimer-Like Prion Disease
Depression, Attention deficit hyperactivity disorder, Emotional lability, Anxiety ORPHA:280397
Panic Disorder 1
Anxiety OMIM:167870
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
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
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia OMIM:607250
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Gait disturbance, Elevated circulating creatine kinase concentration, Increased LDL cholesterol c... OMIM:616516
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Schizophrenia 15
Hyperactivity OMIM:613950
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Absent speech, Anxiety OMIM:619031
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... OMIM:144250
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia, Dysphagia OMIM:615945
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Dystonia 11, Myoclonic
Anxiety, Depression, Panic attack, Agoraphobia, Alcoholism OMIM:159900
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Agitation, Failure to thrive, Tremor, Dystonia, Cardiomyopathy OMIM:619651
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 54
Delayed speech and language development, Attention deficit hyperactivity disorder, Emotional labi... OMIM:617028
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements OMIM:611092
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... OMIM:614561
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia OMIM:620085
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Delayed speech and language development, Attention deficit hyperactivity disorder, Anxiety OMIM:618878
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depression, Anxiety OMIM:619191
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Hyperactivity, Myoclonus, Ataxia, Tremor, Tetraparesis, Hepa... OMIM:615924
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Difficulty walking, Elevated circulating creatine kinase concentration OMIM:610717
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Frequent falls, Dystonia, Cardiomyopathy OMIM:619647
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dysphagia, Dystonia, Fasciculations ORPHA:309169
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Large for gestational age, Hyperactivity ORPHA:356996
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration, Ataxia ORPHA:158048
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Dysphagia, Br... ORPHA:210571
Geniospasm 1
Anxiety OMIM:190100
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... OMIM:616053
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Dysdiadochokinesis, Gait disturbance, Ataxia, Dysmetria, Increased LDL chol... OMIM:277460
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Spasticity, Ankle clonus, Spastic tetraplegia, Babinski sign OMIM:616657
Early-Onset Schizophrenia
Restlessness, Diminished motivation, Abnormal emotion/affect behavior, Shyness, Suicidal ideation... ORPHA:96369
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Agitation, Hemiplegia, Tremor OMIM:141500
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, U... ORPHA:216873
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... ORPHA:90041
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
8p23.1 deletion syndrome
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Huntington Disease-Like 1
Aggressive behavior, Dysmetria, Depression, Anxiety, Unsteady gait, Restlessness OMIM:603218
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating creatine kinase concentrat... OMIM:208920
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Ataxia, Decreased HDL cholesterol concentra... OMIM:615558
Intellectual Developmental Disorder, Autosomal Recessive 37
Spasticity, Hyperactivity OMIM:615493
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Pandas
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A... ORPHA:66624
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Ataxia, Hypercholesterolemia OMIM:616267
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Choreoathetosis, Ataxia, Elevated circulating alpha-fetoprotein concentration, El... ORPHA:64753
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torticollis, Torsion dystonia, Tremor, Dysphagia OMIM:224500
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Ataxia, Increased LDL choles... OMIM:267700
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Hemiballismus, Frequent falls ORPHA:494526
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Hyperactivity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:607616
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Increased seru... OMIM:619405
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia OMIM:600116
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... ORPHA:99657
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Dysphagia,... OMIM:618093
Dystonia 12
Parkinsonism, Torticollis, Tremor, Dysphagia, Dystonia, Bradykinesia OMIM:128235
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Hypertonia OMIM:234500
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dysphagia, Dystonia OMIM:261630
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Attention deficit hyperactivity disorder, Ataxia OMIM:616421
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... ORPHA:251282
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... ORPHA:240103
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... OMIM:606159
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Dystonia 24
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia OMIM:615034
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... ORPHA:454887
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor OMIM:616710
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
Juvenile Huntington Disease
Gait ataxia, Chorea, Hyperactivity, Weight loss, Rigidity, Myoclonus, Ataxia, Progressive cerebel... ORPHA:248111
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia OMIM:614203
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor OMIM:615768
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Dysmetria, Tremor, Impulsivity, Lower limb spasticity OMIM:619028
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... ORPHA:420485
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dystonia, Dys... ORPHA:71517
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Oromandibular dyston... ORPHA:521406
Guanidinoacetate Methyltransferase Deficiency
Chorea, Hyperactivity, Abnormality of extrapyramidal motor function, Ataxia, Progressive extrapyr... ORPHA:382
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Dilated cardiomyopathy, Dystonia ORPHA:324588
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni... OMIM:617284
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Resting tremor, Limb hypertonia, Myoclonus, Choreoathetosis, Dilated cardiomyopathy, Paro... OMIM:606703
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Tremor, Limb dysmetr... OMIM:213600
Dystonia 16
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Laryngeal dys... OMIM:612067
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Tremor OMIM:615400
Glycerol Kinase Deficiency
Lethargy, Hypertriglyceridemia OMIM:307030
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:618620
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism with favorable resp... ORPHA:53351
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Ataxia, Increased circulating ferritin concentration, Hypoproteinemia,... OMIM:603553
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus OMIM:600363
Intellectual Developmental Disorder, X-Linked 109
Poor coordination, Hyperactivity, Impulsivity, Agitation OMIM:309548
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Shuffling gait, Abnor... ORPHA:3077
Spinocerebellar Ataxia Type 14
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98763
Glycine Encephalopathy
Impulsivity, Myoclonus, Restlessness, Hyperactivity OMIM:605899
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Dystonia, Bradykinesia OMIM:605909
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Dystonia 7, Torsion
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... OMIM:602124
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Spasticity, Tremor, Ataxia OMIM:278780
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hypertriglyceridemia, Ataxia ORPHA:363400
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Spasticity, Hyperactivity, Myoclonus, Left ventricular hypertrophy, Failure to thrive OMIM:620145
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Spasticity, Tremor, Ataxia OMIM:300983
Lower Motor Neuron Syndrome With Late-Adult Onset
Upper motor neuron dysfunction, Tremor, Dysphagia, Tongue fasciculations, Fasciculations ORPHA:276435
Hyperphenylalaninemia, Bh4-Deficient, A
Limb hypertonia, Parkinsonism, Small for gestational age, Rigidity, Choreoathetosis, Ataxia, Trem... OMIM:261640
Dengue Fever
Lethargy, Hypoproteinemia ORPHA:99828
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline OMIM:603471
Fraxe Intellectual Disability
Clumsiness, Impulsivity, Hyperactivity, Agitation ORPHA:100973
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... ORPHA:650
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Tremor OMIM:619470
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Patent foramen ovale, Hyperactivity, Attention deficit hyperactivit... OMIM:617182
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor OMIM:615362
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Gait disturbance, Elevated circulating creatine kinase concentration, Increased LDL... ORPHA:98855
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Rigidity, Dysmetria, Tremor OMIM:618090
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Dysmetria, Tremor, Lower limb spasticity, Dysphagia, Dystonia OMIM:617916
Spinocerebellar Ataxia Type 36
Limb myoclonus, Truncal ataxia, Limb ataxia, Hand tremor, Ataxia, Babinski sign, Dysmetria, Head ... ORPHA:276198
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Spinocerebellar Ataxia 23
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor OMIM:610245
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor OMIM:620158
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Griscelli Syndrome Type 1
Ataxia, Hyperlipidemia ORPHA:79476
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Chorea, Spasticity, Abnormal pyramidal sign, Hyperactivity, Limb hypertonia, Abnorma... ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Dysphagia, Hyperkinetic movement... OMIM:619738
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Ataxia, Failure to thrive, Tremor OMIM:616494
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Rigidity, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... ORPHA:397946
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Gait disturbance, Elevated circulating creatine kinase concentration, Increased LDL... ORPHA:98863
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Gait disturbance, Elevated circulating creatine kinase concentration, Increased LDL... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Gait disturbance, Elevated circulating creatine kinase concentration, Increased LDL... ORPHA:98853
Lopes-Maciel-Rodan Syndrome
Spasticity, Ankle clonus, Abnormal pyramidal sign, Agitation, Tremor, Hypertonia, Dysphagia, Dyst... OMIM:617435
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Cog4-Cdg
Ataxia, Hypercholesterolemia ORPHA:263501
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia... OMIM:617145
Glut1 Deficiency Syndrome 2
Choreoathetosis, Ataxia, Tremor, Dystonia, Splenomegaly OMIM:612126
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Hypertonia, Tetraplegia OMIM:274270
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Spasticity, Limb ataxia, Tremor, Frequent falls, Hepatomegaly, Splenomegaly OMIM:616719
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... ORPHA:79263
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Attention deficit hyperactivity disorder... OMIM:619725
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Eyelid myoclonus, Clumsiness, Myoclonus, Hepatosplenomegaly, Tremor, Frequent fal... ORPHA:2590
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... OMIM:615157
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circ... OMIM:614857
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Dysphagia, Hyperkinetic movements, Dystonia OMIM:233910
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Gait disturbance, Dysmetria, Bradykinesia ORPHA:157941
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... ORPHA:363654
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:604367
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Small for gestational age, Atrial septal defect, Hypert... OMIM:620135
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Spasticity, Limb hypertonia, Perimembranous ventricular septal defect OMIM:619170
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Ataxia, Hypoalbuminemia OMIM:617575
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Abnormal posturing, Tip-toe gait, Inability to walk ORPHA:216866
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Dysphagia, Progressive cerebellar at... OMIM:608768
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia OMIM:617836
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... OMIM:606693
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Hepatomegaly, Dystonia, Splenomegaly OMIM:615010
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Ataxia, Babinski sign, Tremor, Dysphagia OMIM:616795
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Spastic tetraplegia OMIM:300886
Combined Oxidative Phosphorylation Deficiency 10
Spasticity, Small for gestational age, Pericardial effusion, Failure to thrive, Hypertrophic card... OMIM:614702
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Parkinsonism-Dystonia 2, Infantile-Onset
Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Tremor, Dystonia OMIM:618049
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia ORPHA:139485
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Limb hypertonia, Small for gestational age, Rigidity, Oculogyric crisis, Tremor, ... ORPHA:70594
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Tremor, Frequent falls, Dysphagia, Tongue fasciculations OMIM:159950
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor OMIM:213200
Spinocerebellar Ataxia 15
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Tremor, Dystonia, Bradykinesia ORPHA:306669
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:435660
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia, Choreoath... OMIM:300055
Laron Syndrome
Hypercholesterolemia ORPHA:633
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Tremor, Fasciculations OMIM:313200
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr... OMIM:615947
Cerebral Creatine Deficiency Syndrome 2
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... OMIM:612736
Leptospirosis
Hyperproteinemia ORPHA:509
Parkinson Disease 21
Rigidity, Tremor, Bradykinesia, Parkinsonism OMIM:616361
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Parkinson-Dementia Syndrome
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia ORPHA:329284
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Attrv30M Amyloidosis
Cardiomegaly, Weight loss, Cardiomyopathy ORPHA:85447
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, Tremor, Hypertonia, ... OMIM:128100
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo... OMIM:618877
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia OMIM:223360
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... ORPHA:99
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Dysphagia OMIM:607734
Chylomicron Retention Disease
Hypocholesterolemia, Hypertriglyceridemia, Steatorrhea ORPHA:71
Amyloidosis, Hereditary, Transthyretin-Related
Spasticity, Hemiparesis, Ataxia, Paraplegia, Tremor, Cardiomegaly, Cardiomyopathy OMIM:105210
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Abnormal posturing, Titubation, Gait disturbance, Bradykinesia ORPHA:225147
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Hypertrophic cardiom... ORPHA:96
Developmental And Epileptic Encephalopathy 46
Failure to thrive, Tremor, Limb hypertonia, Dysphagia OMIM:617162
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Difficulty walking, Ataxia ORPHA:98907
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Smith-Magenis Syndrome
Hypertriglyceridemia, Gait disturbance, Hypercholesterolemia ORPHA:819
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Gait ataxia, Chorea, Abnormal pyramidal sign, Dysphagia, Rigidity, Paraparesis, Babinski sign, Tr... OMIM:607483
Hsd10 Disease, Infantile Type
Restlessness, Spastic diplegia, Poor coordination, Choreoathetosis, Spastic tetraparesis, Hypertr... ORPHA:391428
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Hyperactivity, Cerebral palsy, Myoclonus, Attention deficit hyperactivity disorder, Slend... OMIM:617600
Dysbetalipoproteinemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... ORPHA:412
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Chédiak-Higashi Syndrome
Inability to walk, Gait disturbance, Ataxia, Increased circulating ferritin concentration, Hypopr... ORPHA:167
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Limb hypertonia, Rigidity, Myoclonus, Ataxia, Failure to thrive, Impulsivity, Tremor,... ORPHA:442835
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Biven... OMIM:619424
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Gait disturbance, Difficulty walking, Ataxia ORPHA:90321
4H Leukodystrophy
Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Upper ... ORPHA:289494
Behr Syndrome
Progressive spasticity, Truncal ataxia, Ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls,... OMIM:210000
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Spasticity, Tetraplegia, Clonus ORPHA:3137
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Weight loss, Parkinsonism ORPHA:178509
Classic Progressive Supranuclear Palsy Syndrome
Neuromuscular dysphagia, Abnormal pyramidal sign, Blepharospasm, Parkinsonism, Parkinsonism with ... ORPHA:240071
Lysosomal Acid Lipase Deficiency
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy OMIM:617713
Myopathy With Extrapyramidal Signs
Chorea, Hyperactivity, Ventricular septal defect, Clumsiness, Abnormality of extrapyramidal motor... OMIM:615673
Hypermanganesemia With Dystonia 1
Poor fine motor coordination, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... OMIM:613280
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Chorea, Spasticity, Hyperactivity, Dysdiadochokinesis, Babinski sign, Dysmetria, Imp... OMIM:610217
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Ataxia, Babinski sign, Dysmetria, Tremor, Dysphagia, Dystonia OMIM:607694
Leukodystrophy, Hypomyelinating, 6
Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612438
Parkinson Disease 14, Autosomal Recessive
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... OMIM:612953
Atypical Rett Syndrome
Gait ataxia, Spasticity, Limb myoclonus, Apraxia, Agitation, Tremor, Hand apraxia, Involuntary mo... ORPHA:3095
Mohr-Tranebjaerg Syndrome
Ankle clonus, Abnormal pyramidal sign, Apraxia, Babinski sign, Focal dystonia, Tremor, Attention ... ORPHA:52368
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:614251
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Hemiparesis, Ataxia, Tremor, Intention tremor OMIM:614307
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia ORPHA:329249
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Hyperlipidemia ORPHA:2089
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Parkinsonism, Rigidity, Oculom... ORPHA:99750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Incoordination, Babinski sign, Dysmetria, Tremor, Frequent falls, Dysph... OMIM:302800
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Neuraminidase Deficiency
Myoclonus, Dysmetria, Slurred speech, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Weight loss, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus,... OMIM:137440
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Glutathionuria
Tremor, Action tremor, Dysdiadochokinesis OMIM:231950
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, Spastic diplegia, Clumsiness, Upper motor neuron dysfunction, Hemiplegia... ORPHA:206443
Mohr-Tranebjaerg Syndrome
Spasticity, Tremor, Dystonia, Dysphagia OMIM:304700
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Upper limb spasticity, Babinski sign, Spastic paraplegia, Lower limb spasticity, C... OMIM:609727
Megalocornea-Mental Retardation Syndrome
Ataxia, Hypercholesterolemia OMIM:249310
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... OMIM:210250
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Spinocerebellar Ataxia Type 21
Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebell... ORPHA:98773
Hypermanganesemia With Dystonia 2
Spasticity, Ankle clonus, Parkinsonism, Limb dystonia, Clumsiness, Babinski sign, Scissor gait, T... OMIM:617013
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... ORPHA:101
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Cln5 Disease
Spasticity, Hyperactivity, Dysdiadochokinesis, Truncal ataxia, Clumsiness, Ataxia, Poor gross mot... ORPHA:228360
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Writer's cramp, Choreoathetosis, Ataxia, Progressive spastic quadriplegi... OMIM:312080
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Omenn Syndrome
Hypoproteinemia OMIM:603554
Megalocornea-Intellectual Disability Syndrome
Ataxia, Hypercholesterolemia ORPHA:2479
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentr... OMIM:255120
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor ORPHA:1170
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Ataxia, Spastic tetraparesis,... ORPHA:352649
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Congenital Toxoplasmosis
Cardiomegaly, Failure to thrive in infancy, Hepatomegaly ORPHA:858
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Dysphagia OMIM:619790
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Infantile Sialic Acid Storage Disease
Failure to thrive, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Apraxia, Impulsivity, Attention deficit hyperactivity disorder, Pulmonic stenosis OMIM:620141
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619064
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Small for gestational age, Pericardial effusion, Abnormal tri... ORPHA:555874
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor, ... OMIM:614381
X-Linked Creatine Transporter Deficiency
Chorea, Hyperactivity, Cachexia, Ataxia, Hypertonia, Athetosis, Dystonia ORPHA:52503
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Rigidity, Tremor, Dysphagia, Dystonia, Bradykinesia OMIM:168600
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Ste... ORPHA:470
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma ORPHA:615
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign, Cardiomegaly, Cardio... OMIM:619259
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:370
Alstrom Syndrome
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:203800
Classic Phenylketonuria
Hemiplegia, Tremor, Paraplegia, Attention deficit hyperactivity disorder, Hypertonia ORPHA:79254
Brain-Lung-Thyroid Syndrome
Chorea, Patent foramen ovale, Hyperactivity, Ventricular septal defect, Abnormal cardiac septum m... ORPHA:209905
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Spinocerebellar Ataxia Type 27
Gait ataxia, Truncal ataxia, Hand tremor, Limb ataxia, Tremor ORPHA:98764
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Lethargy, Neonatal hyperbilirubinemia, Hypercholesterol... ORPHA:90674
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Hyperactivity, Hemiparesis, Clumsiness, Paraparesis, Paralysis, ... ORPHA:43
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity, Pulmonic stenosis, Atrial septal defect OMIM:619239
Parkinson Disease 20, Early-Onset
Parkinsonism, Rigidity, Eyelid apraxia, Tremor, Involuntary movements, Dysphagia, Dystonia, Brady... OMIM:615530
Adult-Onset Dystonia-Parkinsonism
Spasticity, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism with favorable response to dopamin... ORPHA:199351
Perry Syndrome
Weight loss, Parkinsonism, Rigidity, Tremor, Disinhibition, Dystonia, Bradykinesia OMIM:168605
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endoc... OMIM:212140
Timothy Syndrome
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Neuromuscular dysphagia, Blepharospasm, Rigidity, Oculomotor apraxia, Spastic dysarthria, Tremor,... ORPHA:240094
Sandhoff Disease
Spasticity, Exaggerated startle response, Upper motor neuron dysfunction, Ataxia, Hepatosplenomeg... OMIM:268800
Acquired Aneurysmal Subarachnoid Hemorrhage