Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Dystonia 30 |
|
Aggressive behavior, Writer's cramp, Torticollis, Leg dystonia, Loss of ambulation, Oromandibular... |
OMIM:619291 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Rigidity, Dementia, Difficulty walking, Mental deterioration, Sensory ataxia, Dystonia |
OMIM:619661 |
Autosomal Recessive Spastic Paraplegia Type 56 |
|
Tip-toe gait, Cognitive impairment, Spastic gait, Spastic paraplegia, Unsteady gait, Dystonia |
ORPHA:320411 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Gait disturbance, Ataxia, Tremor, Mental deterioration, Dystonia |
OMIM:614561 |
Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Lingual dystonia, Limb dystonia, Torticollis, Focal dystonia, Axial dystonia, Craniofacial dyston... |
ORPHA:329466 |
Dystonia 4, Torsion, Autosomal Dominant |
|
Gait ataxia, Limb dystonia, Torticollis, Hemidystonia, Torsion dystonia, Generalized dystonia |
OMIM:128101 |
Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Tip-toe gait, Cognitive impairment, Spastic paraplegia, Unsteady gait, Dystonia |
OMIM:615030 |
Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Dystonia, Difficulty walking, Laryngeal dystonia, Spastic paraplegia |
OMIM:619681 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Anxiety, Focal dystonia, Tremor, Mental deterioration, Dystonia |
ORPHA:309169 |
Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Spastic Ataxia 1, Autosomal Dominant |
|
Memory impairment, Spastic ataxia, Gait disturbance, Spastic paraplegia, Dystonia |
OMIM:108600 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Spastic tetraplegia, Abnormal brainstem MRI signal intensity, Ataxia, Irritability, Dystonia, Inf... |
ORPHA:263410 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Spasticity, Choreoathetosis, Hypoplasia of the pons, Axial hypotonia, Irritability, Dystonia |
OMIM:614249 |
Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Cognitive impairment, Rigidity, Ataxia, Tremor, Dystonia, Anxiety, Memory impairment |
ORPHA:401901 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertrophic cardio... |
OMIM:615382 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Chorea, Aggressive behavior, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Lower limb s... |
ORPHA:98811 |
Dystonia With Cerebellar Atrophy |
|
Craniofacial dystonia, Progressive cerebellar ataxia, Dystonia, Torticollis |
OMIM:611694 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Cognitive impairment, Ataxia, Progressive neurologic deterioration, Mental deterioration, Dystonia |
OMIM:619196 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Cognitive impairment, Inertia, Rigidity, Limb dystonia, Gait disturbance, Emo... |
ORPHA:216873 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel |
OMIM:613211 |
Spinocerebellar Ataxia Type 2 |
|
Gait ataxia, Chorea, Abnormal substantia nigra morphology, Abnormal cortical gyration, Postural t... |
ORPHA:98756 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Iron accumulation in substantia nigra, Inability to walk, Ataxia, Hypotonia, Lower limb spasticit... |
OMIM:619389 |
Dystonia 33 |
|
Spasticity, Limb dystonia, Axial dystonia, Axial hypotonia, Dystonia |
OMIM:619687 |
Developmental And Epileptic Encephalopathy 38 |
|
Generalized hypotonia, Dystonia, Ataxia, Hypertonia |
OMIM:617020 |
Dystonia 25 |
|
Laryngeal dystonia, Limb dystonia, Torticollis, Lingual dystonia |
OMIM:615073 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... |
ORPHA:251282 |
Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Cognitive impairment, Rigidity, Limb dystonia, Limb ataxia, Head tremor,... |
ORPHA:101109 |
Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Cognitive impairment, Torticollis, Gait disturbance, Tremo... |
OMIM:617284 |
Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
Striatonigral Degeneration, Childhood-Onset |
|
Loss of ambulation, Hypotonia, Steppage gait, Hypertonia, Craniofacial dystonia, Unsteady gait, D... |
OMIM:617054 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Chorea, Self-injurious behavior, Inability to walk, Axial hypotonia, Dystonia |
OMIM:618760 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Hypoplasia of the brainstem, Tremor, Axial hypotonia, Anxiety, Dystonia |
OMIM:619651 |
Huntington Disease-Like 2 |
|
Chorea, Inertia, Rigidity, Apathy, Dementia, Dystonia, Action tremor, Subcortical dementia, Anxie... |
OMIM:606438 |
Huntington Disease-Like 2 |
|
Chorea, Memory impairment, Gait disturbance, Dementia, Dystonia |
ORPHA:98934 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Rigidity, Substantia nigra gliosis, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Dystonia 6, Torsion |
|
Lingual dystonia, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Oromandibular dys... |
OMIM:602629 |
Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Gait disturbance, Head tremor, Axial dystonia |
OMIM:614860 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Choreoathetosis, Hypotonia, Tremor, Progressive neurologic deterioration, Hypertonia, Irritabilit... |
OMIM:261630 |
Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Tip-toe gait, Spastic gait, Upper limb spasticity, Emotional lability, Ataxia, Spastic paraplegia... |
OMIM:609195 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... |
ORPHA:477781 |
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Dystonia, Cogwheel rigidity, Spastic gait, Hypertonia |
OMIM:618284 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Choreoathetosis, Dementia, Ataxia, Dystonia |
OMIM:125370 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Spasticity, Inability to walk, Ataxia, Hypoplasia of the pons, Hypotonia, Dystonia |
OMIM:618276 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Dementia, Dysmetria, Head tremor, Axial dystonia, Action tremor, Anxiety, Pro... |
OMIM:604326 |
Primary Dystonia, Dyt17 Type |
|
Torticollis, Generalized dystonia, Craniofacial dystonia |
ORPHA:370103 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Dystonia 12 |
|
Torticollis, Emotional lability, Tremor, Anxiety, Unsteady gait, Dystonia |
OMIM:128235 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Axial hypotonia, Dystonia |
OMIM:618425 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
Dystonia 11, Myoclonic |
|
Anxiety, Writer's cramp, Torticollis, Hypotonia, Tremor, Panic attack, Agoraphobia |
OMIM:159900 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
Dystonia With Ringbinden |
|
Chorea, Dystonia, Gait disturbance |
OMIM:224550 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Dystonia 31 |
|
Writer's cramp, Leg dystonia, Craniofacial dystonia, Difficulty walking, Arm dystonia, Generalize... |
OMIM:619565 |
Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Limb dystonia, Torticollis, Generalized hypotonia, Emotional labilit... |
ORPHA:71517 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Chorea, Aggressive behavior, Falls, Ataxia, Axial hypotonia, Dystonia |
OMIM:619150 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Upper limb spasticity, Gait disturbance, Limb ataxia, Spastic paraplegia, Lower limb spasticity, ... |
OMIM:618418 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Generalized hypotonia, Ataxia, Hypotonia, Athetosis, Dystonia |
OMIM:615159 |
Spinocerebellar Ataxia Type 17 |
|
Chorea, Spasticity, Blepharospasm, Rigidity, Writer's cramp, Torticollis, Gait disturbance, Ataxi... |
ORPHA:98759 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Spasticity, Self-injurious behavior, Inability to walk, Hypotonia, Dystonia |
OMIM:617820 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... |
ORPHA:2972 |
Spinocerebellar Ataxia 14 |
|
Gait ataxia, Impaired vibration sensation at ankles, Dysmetria, Focal dystonia, Mental deteriorat... |
OMIM:605361 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Ataxia, Dysmetria, Tremor, Anxiety, Mental deterioration, Irritability, Dyst... |
OMIM:618093 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Anxiety, Rigidity, Apathy, Tremor, Dystonia, Mental deterioration, Memory impairment |
ORPHA:240085 |
Alternating Hemiplegia Of Childhood 2 |
|
Choreoathetosis, Dystonia, Ataxia, Mental deterioration |
OMIM:614820 |
Spinocerebellar Ataxia Type 1 |
|
Chorea, Cognitive impairment, Inertia, Dysdiadochokinesis, Gait imbalance, Abnormal brainstem mor... |
ORPHA:98755 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Cognitive impairment, Dysdiadochokinesis, Limb ataxia, Gait disturbance, Ataxia, Dys... |
OMIM:617145 |
Dystonia, Dopa-Responsive |
|
Gait ataxia, Impaired distal vibration sensation, Spasticity, Dysdiadochokinesis, Postural tremor... |
OMIM:128230 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti... |
OMIM:619902 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Upper limb spasticity, Dystonia, Lower limb spasticity, Spastic gait |
OMIM:619966 |
Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Oral motor hypotonia, Rigidity, Dementia, Ataxia, Progressive cerebellar ata... |
ORPHA:248111 |
Myoclonus-Dystonia Syndrome |
|
Writer's cramp, Torticollis, Anxiety, Dystonia, Panic attack |
ORPHA:36899 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Cognitive impairment, Gait disturbance, Spastic paraplegia, Upper limb hypertonia, Impaired vibra... |
OMIM:614898 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Dysdiadochokinesis, Rigidity, Gait disturbance, Tremor, Dystonia, Mental deterioration, L... |
OMIM:213600 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypogonadism, Dystonia, Ataxia |
OMIM:616113 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Spasticity, Inability to walk, Ataxia, Dysmetria, Hypotonia, Dystonia, Atrophy/Degeneration affec... |
OMIM:617954 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Dysdiadochokinesis, Ataxia, Spastic paraplegia, Spastic tetraparesis, Dysmetria, Dystonia, Diffic... |
OMIM:612319 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
Dystonia 17, Torsion, Autosomal Recessive |
|
Focal dystonia, Torticollis |
OMIM:612406 |
Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Aggressive behavior, Frontal lobe dementia, Rigidity, Limb ataxia, Ataxia, P... |
OMIM:607136 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Oromandibular... |
OMIM:615643 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Gait ataxia, Spasticity, Spastic ataxia, Spastic dysarthria, Dysmetria, Progressive cerebellar at... |
ORPHA:314603 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth |
OMIM:183300 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Inability to walk, Ataxia, Difficulty walking, Dystonia |
OMIM:617829 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Torticollis, Paroxysmal dystonia |
OMIM:118800 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Cognitive impairment, Shuffling gait, Limb hypertonia, Rigidity, Loss of ambulation, ... |
OMIM:615528 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Inability to walk, Generalized hypotonia, Ataxia, Hypotonia, Lower limb spasticity, Dystonia, Bro... |
OMIM:616756 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the brainstem, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of the pon... |
OMIM:619301 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Aggressive behavior, Self-injurious behavior, Ataxia, Hypotonia, Athetosis, Dystonia |
ORPHA:382 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dystonia, Cognitive impairment, Ataxia |
ORPHA:1171 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Rigidity, Limb dystonia, Tremor, Axial hypotonia |
OMIM:605407 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Spinocerebellar Ataxia Type 11 |
|
Progressive cerebellar ataxia, Dystonia, Gait imbalance, Difficulty walking |
ORPHA:98767 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Chorea, Spasticity, Self-injurious behavior, Inability to walk, Oculogyric crisis, Hypotonia, Dys... |
OMIM:614254 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Torticollis, Ataxia, Tremor, Axial hypotonia, Dystonia |
OMIM:607317 |
Dystonia 32 |
|
Limb dystonia, Torticollis, Laryngeal dystonia |
OMIM:619637 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Chorea, Rigidity, Torticollis, Choreoathetosis, Dystonia |
ORPHA:98810 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia |
OMIM:128200 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria |
OMIM:614173 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Chorea, Spasticity, Self-injurious behavior, Generalized hypotonia, Dystonia, Athetosis, Atrophy/... |
OMIM:617493 |
Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... |
OMIM:166750 |
Oxoglutarate Dehydrogenase Deficiency |
|
Gait ataxia, Falls, Rigidity, Dysmetria, Hypotonia, Unsteady gait, Dystonia |
OMIM:203740 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Spasticity, Falls, Generalized hypotonia, Ataxia, Hypotonia, Axial hypotonia, Irritability, Dystonia |
OMIM:619224 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Ataxia, Dysmetria, Hypotonia, Loss of ambulation, Tremor, Lower limb spasticity, Axial hypotonia,... |
OMIM:617916 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy, Delayed eruption of primary teeth, Failur... |
OMIM:180900 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Aggressive behavior, Choreoathetosis, Ataxia, Tremor, Axial hypotonia, Dystonia |
OMIM:612716 |
Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Athetosis, Dystonia, Writer's cramp |
ORPHA:98809 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Choreoathetosis, Positive Romberg sign, Ataxia, Dysmetria, Loss of ambulation, Hypoto... |
OMIM:618088 |
Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Dystonia |
OMIM:610353 |
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Writer's cramp, Paroxysmal dystonia |
ORPHA:163727 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta |
OMIM:616270 |
Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Cognitive impairment, Gait disturbance, Emotional lability, Ataxia, Tremor, Mental de... |
ORPHA:542310 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Ataxia, Tremor, Mental deterioration, Dystonia |
OMIM:615924 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Gait ataxia, Spasticity, Truncal ataxia, Episodic ataxia, Gait disturbance, Ataxia, Hypotonia, Di... |
OMIM:614458 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Striatonigral Degeneration, Infantile |
|
Spasticity, Choreoathetosis, Dystonia |
OMIM:271930 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Ataxia, Hypotonia, Pachygyria, Anxiety, Dystonia |
OMIM:620094 |
Raynaud-Claes Syndrome |
|
Aggressive behavior, Generalized hypotonia, Hypotonia, Lower limb spasticity, Anxiety, Progressiv... |
OMIM:300114 |
Dopa-Responsive Dystonia |
|
Generalized dystonia, Anxiety, Inability to walk, Rigidity, Oculogyric crisis, Gait disturbance, ... |
ORPHA:255 |
Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... |
ORPHA:49042 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Frontotemporal dementia, Aggressive behavior, Rigidity, Apathy, Gait disturbance, Dystonia, Memor... |
OMIM:600795 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Dystonia, Spastic tetraplegia, Inability to walk |
OMIM:618646 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Iron accumulation in substantia nigra, Aggressive behavior, Rigidity, Dementia, Spastic parapares... |
ORPHA:329284 |
3-Methylglutaconic Aciduria Type 1 |
|
Spastic tetraparesis, Progressive cerebellar ataxia, Dystonia |
ORPHA:67046 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Axial hypotonia, Dystonia, Spastic tetraplegia |
OMIM:251280 |
Baker-Gordon Syndrome |
|
Self-injurious behavior, Inability to walk, Choreoathetosis, Ataxia, Neonatal hypotonia, Dystonia |
OMIM:618218 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Writer's cramp, Rigidity, Choreoathetosis, Dementia, Ataxia, E... |
OMIM:606159 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Generalized hypotonia, Tremor, Progressive neurologic... |
OMIM:233910 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Gait ataxia, Generalized dystonia, Postural tremor, Rigidity, Limb dystonia, Oculogyric crisis, G... |
ORPHA:101150 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
3-Methylglutaconic Aciduria, Type I |
|
Spasticity, Cognitive impairment, Spastic tetraplegia, Dementia, Ataxia, Athetosis, Dystonia, Sel... |
OMIM:250950 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia |
OMIM:611147 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Intention tremor, Dysmetria, Hypotonia, Appendi... |
OMIM:616127 |
Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
OMIM:110050 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Splenomegaly, Hepatomegaly |
OMIM:615285 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
Dyschromatosis Symmetrica Hereditaria |
|
Torsion dystonia |
ORPHA:41 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Dystonia |
OMIM:104290 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Loss of ambulation, Tremor, Irritability, Dystonia |
OMIM:615010 |
Spinocerebellar Ataxia 21 |
|
Gait ataxia, Aggressive behavior, Cognitive impairment, Akinesia, Postural tremor, Apathy, Limb a... |
OMIM:607454 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125420 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Ataxia, Hypoesthesia, Dysmetria, Dystonia, Mental deterioration, Memory impairment |
OMIM:618317 |
Glut1 Deficiency Syndrome 2 |
|
Choreoathetosis, Ataxia, Tremor, Irritability, Dystonia |
OMIM:612126 |
Developmental And Epileptic Encephalopathy 44 |
|
Spasticity, Irritability, Generalized hypotonia, Athetosis, Dystonia |
OMIM:617132 |
Developmental And Epileptic Encephalopathy 7 |
|
Spastic tetraparesis, Hypotonia, Dystonia |
OMIM:613720 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Cognitive impairment, Shuffling gait, Dysdiadochokinesis, Limb dystonia, Oculogyric crisis, Gener... |
ORPHA:352649 |
Neuroferritinopathy |
|
Chorea, Iron accumulation in substantia nigra, Blepharospasm, Cognitive impairment, Resting tremo... |
ORPHA:157846 |
Dystonia, Focal, Task-Specific |
|
Writer's cramp |
OMIM:611284 |
Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Ataxia, Spastic paraplegia, Lower ... |
OMIM:607565 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Difficulty walking, Hypertonia, Arm dystonia, Spasticity, Spastic diplegia, Spastic tetraparesis,... |
OMIM:205100 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypoplasia of the brainstem, Spastic tetraplegia, Simplified gyral pattern, Hypotonia, Hypertonia... |
OMIM:619302 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Rigidity, Limb dystonia, Limb ataxia, Hypertonia, Mental deterioration, Generalized dystonia |
OMIM:618824 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia |
OMIM:601809 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Self-injurious behavior, Spastic tetraplegia, Hypotonia, Anxiety, Athetosis, Dystonia |
OMIM:619922 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cognitive impairment, Postural tremor, Rigidity, Gait disturbance, Tremor, Dystonia |
ORPHA:314632 |
Leukodystrophy, Hypomyelinating, 18 |
|
Spasticity, Spastic tetraplegia, Progressive spasticity, Atrophy/Degeneration affecting the brain... |
OMIM:618404 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Rigidity, Gait disturbance, Ataxia, Hypotonia, Generalized dystonia, Dystonia |
OMIM:618239 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Generalized hypotonia, Dystonia |
OMIM:616763 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Chorea, Spasticity, Aggressive behavior, Inability to walk, Limb hypertonia, Impaire... |
ORPHA:500180 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Rigidity, Choreoathetosis, Ataxia, Tremor, Progressive neurologic deterioration,... |
OMIM:261640 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Dysdiadochokinesis, Oculogyric crisis, Ataxia, Hypotonia, Tremor, Axial hypotonia... |
OMIM:618049 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Cognitive impairment, Truncal ataxia, L... |
OMIM:208920 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Rigidity, Dementia, Anxiety, Dystonia |
OMIM:605909 |
Adult Krabbe Disease |
|
Somatic sensory dysfunction, Progressive spastic paraparesis, Spasticity, Impaired tactile sensat... |
ORPHA:206448 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Resting tremor, Limb hypertonia, Choreoathetosis, Hypotonia, Axial hypotonia, Anxiety, Dy... |
OMIM:606703 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Limb hypertonia, Oculogyric crisis, Generalized hypotonia, Hypertonia, Axial hypotonia, Dystonia,... |
OMIM:617384 |
Joubert Syndrome 20 |
|
Aggressive behavior, Molar tooth sign on MRI, Self-mutilation, Inability to walk |
OMIM:614970 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Primary Dystonia, Dyt21 Type |
|
Blepharospasm, Paroxysmal dystonia, Limb dystonia, Torticollis, Focal dystonia, Axial dystonia, L... |
ORPHA:306734 |
Developmental And Epileptic Encephalopathy 69 |
|
Axial hypotonia, Dystonia, Spastic tetraplegia, Inability to walk |
OMIM:618285 |
Hemidystonia-Hemiatrophy Syndrome |
|
Limb dystonia, Dystonia |
ORPHA:306741 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Scissor gait, Loss of ambulation, Tremor, Dystonia, Oromandibular dystonia, Infantile... |
ORPHA:521406 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Hypotonia, Aggressive behavior, Dystonia, Broad-based gait |
OMIM:619157 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Microdontia, Short nose, Hypoplasia of the maxilla, Tooth agenesis, Cleft ... |
ORPHA:1248 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Spasticity, Cognitive impairment, Truncal ataxia, Limb dystonia, Torticollis, Limb ataxia, Hypoto... |
OMIM:617560 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Generalized dystonia, Tip-toe gait, Inability to walk, Limb dystonia, Gait disturbanc... |
OMIM:617013 |
Neurodegeneration With Brain Iron Accumulation |
|
Chorea, Spasticity, Rigidity, Dystonia |
ORPHA:385 |
Corticobasal Syndrome |
|
Somatic sensory dysfunction, Akinesia, Limb dystonia, Gait disturbance, Dementia, Tremor, Dystoni... |
ORPHA:454887 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Spasticity, Inability to walk, Loss of ability to walk in early childhood, Irritability, Generali... |
OMIM:612073 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... |
OMIM:601216 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Difficulty walking, Axial hypotonia, Dystonia |
ORPHA:324588 |
Joubert Syndrome 25 |
|
Generalized hypotonia, Molar tooth sign on MRI, Ataxia |
OMIM:616781 |
Leigh Syndrome |
|
Spasticity, Hepatocellular necrosis, Generalized hypotonia, Focal substantia nigra T2 hyperintens... |
OMIM:256000 |
Dystonia 16 |
|
Limb dystonia, Unsteady gait, Torticollis, Postural tremor |
ORPHA:210571 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Athetosis, Dystonia, Amyotrophic lateral sclerosis |
OMIM:300857 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Writer's cramp, Torticollis, Focal dystonia, Head tremor, Axial dystonia, Difficulty walking, Cra... |
ORPHA:420492 |
Dystonia 9 |
|
Cognitive impairment, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia |
OMIM:601042 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Chorea, Spasticity, Cognitive impairment, Motor deterioration, Dementia, Ataxia, Dysmetria, Tremo... |
ORPHA:79263 |
Stickler Syndrome Type 1 |
|
Long philtrum, Short nose, Hypoplasia of the maxilla, Cataract, Cleft palate |
ORPHA:90653 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Spasticity, Cognitive impairment, Titubation, Ataxia, Dystonic gait, Spastic tetraparesis, Hypoto... |
ORPHA:280219 |
Leukodystrophy, Hypomyelinating, 21 |
|
Ataxia, Mental deterioration, Hypogonadotropic hypogonadism, Athetosis, Dystonia |
OMIM:619310 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia, Delayed menarche |
ORPHA:330050 |
Huntington Disease |
|
Chorea, Aggressive behavior, Gait imbalance, Suicidal ideation, Anxiety, Inability to walk, Rigid... |
ORPHA:399 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Chorea, Retrocollis, Cognitive impairment, Tip-toe gait, Inability to walk, Spastic diplegia, Opi... |
ORPHA:300605 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Melanocytic Nevus Syndrome, Congenital |
|
Long philtrum, Deep philtrum, Prominence of the premaxilla, Short nose, Everted lower lip vermili... |
OMIM:137550 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Gait ataxia, Chorea, Spasticity, Self-injurious behavior, Inability to walk, Dystonia |
OMIM:618917 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Generalized hypotonia, Dystonia, Ataxia |
OMIM:618224 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Spasticity, Abnormal substantia nigra morphology, Shuffling gait, Rigidity, Gait disturbance, Han... |
ORPHA:289560 |
Leukodystrophy, Hypomyelinating, 16 |
|
Gait ataxia, Shuffling gait, Choreoathetosis, Intention tremor, Dysmetria, Hypotonia, Hypertonia,... |
OMIM:617964 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism, Tremor, Dystonia, Axial hypotonia |
OMIM:619647 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Gait ataxia, Truncal ataxia, Intention tremor, Dysmetria, Unsteady gait, Dystonia, Nonprogressive... |
ORPHA:453521 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Postural tremor, Resting tremor, Akinesia, Rigidity, Freezing of gait, Thinning of the substantia... |
OMIM:619911 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Generali... |
ORPHA:99657 |
Pelizaeus-Merzbacher Disease |
|
Cognitive impairment, Inability to walk, Writer's cramp, Apathy, Choreoathetosis, Psychomotor det... |
OMIM:312080 |
Developmental And Epileptic Encephalopathy 53 |
|
Hypotonia, Dystonia, Progressive neurologic deterioration, Spastic tetraplegia |
OMIM:617389 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia |
OMIM:602066 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Gait ataxia, Spasticity, Hypoplasia of the brainstem, Happy demeanor, Hypotonia, Facial hypotonia... |
OMIM:617807 |
Atypical Rett Syndrome |
|
Gait ataxia, Abnormal muscle tone, Spasticity, Inability to walk, Gait disturbance, Impaired pain... |
ORPHA:3095 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia |
ORPHA:53583 |
Ataxia With Vitamin E Deficiency |
|
Dysdiadochokinesis, Gait disturbance, Ataxia, Diabetes mellitus, Dysmetria, Tremor, Hypertonia, M... |
ORPHA:96 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... |
OMIM:257850 |
Axenfeld-Rieger Syndrome |
|
Posterior embryotoxon, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Microdontia, Hypodontia... |
ORPHA:782 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Impaired vibration sensation at ankles, Gait disturbance, Lower limb spasticity, Decreased serum ... |
ORPHA:101006 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Spasticity, Rigidity, Choreoathetosis, Gait disturbance, Ataxia, Spastic tetraparesi... |
ORPHA:225154 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Hand tremor, Dementia, Ataxia, Dystonia |
OMIM:615889 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Diminished motivation, Aggressive behavior, Cognitive impairment, Gait apraxia, Dysd... |
OMIM:615157 |
Primary Dystonia, Dyt6 Type |
|
Blepharospasm, Lingual dystonia, Limb dystonia, Torticollis, Craniofacial dystonia, Laryngeal dys... |
ORPHA:98806 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Dystonia |
OMIM:611031 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Generalized hypotonia, Ataxia, H... |
OMIM:609583 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Dystonia |
OMIM:607488 |
Huntington Disease-Like 3 |
|
Chorea, Spasticity, Cognitive impairment, Progressive gait ataxia, Extrapyramidal muscular rigidi... |
ORPHA:157946 |
Developmental And Epileptic Encephalopathy 17 |
|
Chorea, Athetosis, Dystonia |
OMIM:615473 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
Dystonia 16 |
|
Retrocollis, Cognitive impairment, Postural tremor, Limb dystonia, Gait disturbance, Laryngeal dy... |
OMIM:612067 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Rigidity, Scissor gait, Tremor, Lower limb spasticity, Dystonia |
OMIM:260300 |
Folinic Acid-Responsive Seizures |
|
Chorea, Ataxia, Spastic tetraparesis, Difficulty walking, Hypertonia, Irritability, Dystonia, Bro... |
ORPHA:79097 |
Kufor-Rakeb Syndrome |
|
Spasticity, Aggressive behavior, Akinesia, Rigidity, Torticollis, Gait disturbance, Dementia, Ata... |
OMIM:606693 |
Infantile Dystonia-Parkinsonism |
|
Chorea, Limb hypertonia, Oculogyric crisis, Hypertonia, Axial hypotonia, Irritability, Dystonia |
ORPHA:238455 |
Spastic Ataxia 3, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Cognitive impairment, Ataxia, Dysmetria, Loss of ambulat... |
OMIM:611390 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Wide nasal bridge, Microdontia, Hypodontia, Anterior chamber synechiae, Sh... |
OMIM:601499 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Chorea, Spasticity, Inability to walk, Rigidity, Ataxia, Mental deterioration, Dystonia |
OMIM:617672 |
Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Torsion dystonia, Tremor |
OMIM:314250 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Aggressive behavior, Ataxia, Tremor, Action tremor, Hypertonia, Anxiety, Dystonia |
OMIM:619738 |
Mepan Syndrome |
|
Chorea, Spasticity, Limb dystonia, Hemidystonia, Gait disturbance, Ataxia, Axial dystonia, Hypoto... |
ORPHA:508093 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Truncal ataxia, Ataxia, Dysmetria, Hypotonia, Head titubation, Irritability, Dystonia |
OMIM:250620 |
4H Leukodystrophy |
|
Decreased response to growth hormone stimulation test, Dysdiadochokinesis, Abnormality of thyroid... |
ORPHA:289494 |
Episodic Ataxia, Type 9 |
|
Dystonia, Episodic ataxia |
OMIM:618924 |
Leber Optic Atrophy And Dystonia |
|
Spasticity, Athetosis, Dystonia, Dementia |
OMIM:500001 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Generalized hypotonia, Ataxia, Tremor, Dystonia |
OMIM:617836 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Spasticity, Tip-toe gait, Generalized hypotonia, Dysmetria, Hypotonia, Dystonia |
OMIM:251950 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Spasticity, Athetosis, Dystonia, Ataxia |
OMIM:612951 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Spasticity, Inability to walk, Spastic paraplegia, Neonatal hypotonia, Dystonia, Waddling gait |
OMIM:614066 |
Dystonia 28 |
|
Hypothyroidism, Precocious puberty, Torticollis, Leg dystonia, Oromandibular dystonia, Anxiety, A... |
ORPHA:589618 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Inability to walk, Irritability, Dystonia, Premature pubarche, Infantile muscular hypotonia |
ORPHA:457205 |
Spinocerebellar Ataxia 28 |
|
Gait ataxia, Somatic sensory dysfunction, Spasticity, Limb ataxia, Dystonia, Lower limb hypertonia |
OMIM:610246 |
Joubert Syndrome 27 |
|
Gait ataxia, Molar tooth sign on MRI, Ataxia, Hypotonia, Axial hypotonia |
OMIM:617120 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Cognitive impairment, Spastic ataxia, Dysdiadochokinesis, Ataxia, Spastic paraparesis... |
OMIM:614487 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition |
ORPHA:2776 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Hypothyroidism, Abnormal substantia... |
ORPHA:98808 |
Joubert Syndrome 31 |
|
Truncal ataxia, Hypotonia, Molar tooth sign on MRI |
OMIM:617761 |
Split-Hand/Foot Malformation 3 |
|
High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate |
OMIM:246560 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er... |
OMIM:273050 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Spastic gait, Postural tremor, Progressive gait ataxia, Spastic dysarthria, Dementia, Loss of amb... |
ORPHA:447757 |
Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, S... |
OMIM:614753 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Spasticity, Hypotonia, Axial hypotonia, Dystonia |
OMIM:616139 |
Huntington Disease-Like 3 |
|
Chorea, Spasticity, Ataxia, Mental deterioration, Unsteady gait, Dystonia |
OMIM:604802 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spasticity, Spastic tetraplegia, Adrenal insufficiency, Choreoathetosis, Generalized hypotonia, D... |
OMIM:618238 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Spasticity, Inability to walk, Choreoathetosis, Spastic tetraparesis, Axial hypotonia, Opisthoton... |
OMIM:619653 |
Ataxia-Oculomotor Apraxia 4 |
|
Cognitive impairment, Atrophy/Degeneration affecting the brainstem, Ataxia, Impaired vibratory se... |
OMIM:616267 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Progressive spastic paraplegia, Spasticity, Spastic dysarthria, Hypotonia, Facial hypotonia, Diff... |
ORPHA:280763 |
Infantile Convulsions And Choreoathetosis |
|
Chorea, Athetosis, Choreoathetosis, Dystonia |
ORPHA:31709 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Chorea, Spasticity, Choreoathetosis, Ataxia, Hypertonia, Dystonia |
ORPHA:71277 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Wide nasal bridge, Micrognathia, Everted lower lip vermilion, ... |
OMIM:616367 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Spastic tetraplegia, Ataxia, Spastic paraplegia, Neonatal hypotonia, Unsteady gait, Dystonia |
OMIM:245349 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth |
OMIM:156510 |
Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Manganese Poisoning |
|
Aggressive behavior, Akinesia, Postural tremor, Gait disturbance, Emotional lability, Dystonia, C... |
ORPHA:306682 |
Spinocerebellar Ataxia Type 8 |
|
Gait ataxia, Spasticity, Rigidity, Spastic dysarthria, Limb ataxia, Ataxia, Hypoplasia of the pon... |
ORPHA:98760 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Aggressive behavior, Akinesia, Anxiety, Rigidity, Dementia, Spastic paraparesis, Tremor, Mental d... |
OMIM:300894 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Primary Dystonia, Dyt4 Type |
|
Blepharospasm, Dysdiadochokinesis, Upper limb postural tremor, Torticollis, Gait disturbance, Dem... |
ORPHA:98805 |
Foxg1 Syndrome |
|
Spasticity, Cognitive impairment, Inability to walk, Choreoathetosis, Hypotonia, Difficulty walki... |
ORPHA:561854 |
Leukodystrophy, Hypomyelinating, 2 |
|
Cognitive impairment, Progressive spasticity, Rigidity, Choreoathetosis, Ataxia, Spastic parapare... |
OMIM:608804 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Shuffling gait, Spastic gait, Spastic tetraplegia, Resting tremor, Choreoathetosis, Emotional lab... |
OMIM:300055 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Gait disturbance, Emotional lability, Dementia, Ataxia, Abnormal lower motor neuron m... |
OMIM:614298 |
Joubert Syndrome 15 |
|
Hypotonia, Generalized hypotonia, Molar tooth sign on MRI, Ataxia |
OMIM:614464 |
Leigh Syndrome With Leukodystrophy |
|
Progressive spastic paraplegia, Spasticity, Emotional lability, Hypotonia, Progressive cerebellar... |
ORPHA:255241 |
Leukodystrophy, Hypomyelinating, 14 |
|
Spasticity, Generalized hypotonia, Dystonia |
OMIM:617899 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Shuffling gait, Inability to walk, Akinesia, Resting tremor, Rigidity, Short stepped... |
ORPHA:391411 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Choreoathetosis, Ataxia, Hypotonia, Neonatal hypotonia, Generalized dystonia... |
OMIM:245348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Limb dystonia, Torticollis, Choreoathetosis, Ataxia, Hypotonia |
OMIM:619054 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Progressive spastic paraplegia, Spasticity, Ataxia, Puberty and gonadal disorders, Difficulty wal... |
ORPHA:464282 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Choreoathetosis, Ataxia, Tremor, Axial hypotonia, Dystonia, Self-mutilation |
OMIM:619422 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Spastic tetraparesis, Hemidystonia, Spastic gait |
OMIM:619052 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Hypotonia, Dystonia, Tremor |
ORPHA:139485 |
Developmental And Epileptic Encephalopathy 67 |
|
Dystonia, Athetosis, Gait disturbance |
OMIM:618141 |
Joubert Syndrome 33 |
|
Hypotonia, Molar tooth sign on MRI, Ataxia |
OMIM:617767 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Paucity of anterior horn motor neurons, Generalized hypotonia, Dystonia, Diffi... |
OMIM:611890 |
Pontocerebellar Hypoplasia, Type 9 |
|
Spasticity, Hypoplasia of the pons, Facial hypotonia, Axial hypotonia, Hypertonia, Irritability, ... |
OMIM:615809 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Gait ataxia, Chorea, Inability to walk, Rigidity, Truncal titubation, Action tremor, Hypertonia, ... |
OMIM:607483 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Spastic diplegia, Ataxia |
OMIM:619065 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hypotonia, Neonatal hypotonia, Hypertonia, Irritability, Dystonia |
OMIM:264470 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Choreoathetosis, Paroxysmal dystonia, Ataxia |
OMIM:606777 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Gait ataxia, Chorea, Dysdiadochokinesis, Choreoathetosis, Ataxia, Dysmetria, Hypotonia, Lower lim... |
OMIM:604391 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Hypotonia, Generalized hypotonia, Dystonia |
OMIM:618244 |
Proximal Myopathy With Extrapyramidal Signs |
|
Chorea, Resting tremor, Ataxia, Difficulty walking, Insulin-resistant diabetes mellitus, Dystonia... |
ORPHA:401768 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, Inability to walk, Ataxia, Hypotonia, Pontocerebellar atrophy, Lower limb spasticity,... |
OMIM:617854 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Irritability, Dystonia, Generalized hypotonia, Spastic tetraplegia |
OMIM:618237 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors, Hyperopic astigmatism |
ORPHA:397973 |
Joubert Syndrome 32 |
|
Hypotonia, Molar tooth sign on MRI, Ataxia, Polymicrogyria |
OMIM:617757 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Hypodontia, Enamel hypoplasia, Carious teeth, Oral mucosal blisters |
OMIM:226650 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Wide nasal bridge, Abnormally prominent line... |
OMIM:180500 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Dystonia, Cognitive impairment, Ataxia |
ORPHA:459033 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Rigidity, Choreoathetosis, Ataxia, Hypotonia, Tremor, Axial hypotonia, Dystonia |
OMIM:612438 |
Posttransplant Acute Limbic Encephalitis |
|
Memory impairment, Cognitive impairment, Ataxia, Anxiety, Dystonia |
ORPHA:163921 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Hand tremor, Paroxysmal dystonia |
OMIM:608105 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Progressive spasticity, Generalized hypotonia, Ataxia, Dysesthesia, Head titubation, Difficulty w... |
ORPHA:527497 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Hypotonia, Choreoathetosis, Dystonia, Inability to walk |
OMIM:618497 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Rigidity, Limb dystonia, Oculogyric crisis, Tremor, Cogwheel rigidity, Hypertonia, Axial ... |
OMIM:613135 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Dystonia, Difficulty walking, Ataxia |
OMIM:616684 |
20P12.3 Microdeletion Syndrome |
|
Long philtrum, Wide nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Malar flattening |
ORPHA:261295 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... |
ORPHA:1028 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Anxiety, Resting tremor, Ataxia, Cogwheel rigidity, Panic attack, Dystonia, Intention tremor |
OMIM:619725 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Hand tremor, Torsion dyston... |
ORPHA:53351 |
Ataxia-Telangiectasia-Like Disorder |
|
Gait ataxia, Chorea, Dysdiadochokinesis, Generalized hypotonia, Ataxia, Dysmetria, Hypergonadotro... |
ORPHA:251347 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairmen... |
ORPHA:309246 |
Leukodystrophy, Hypomyelinating, 20 |
|
Spastic tetraplegia, Torticollis, Hypertonia, Irritability, Dystonia |
OMIM:619071 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Generalized hypotonia, Torsion dys... |
OMIM:128100 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Perisylvian polymicrogyria, Anterior hypopituitarism, Generalized hypotonia, ... |
ORPHA:280195 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Tooth malposition, Micrognathia, Microdontia, Hypodontia, Oligodontia, Short nose, Hy... |
ORPHA:363417 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Ataxia, Delayed puberty, Dysmetria, Loss of ambulation, Tremor, Hypo... |
OMIM:607694 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs i... |
OMIM:615415 |
Developmental And Epileptic Encephalopathy 6B |
|
Chorea, Inability to walk, Choreoathetosis, Ataxia, Hypotonia, Axial hypotonia, Dystonia |
OMIM:619317 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Gait ataxia, Truncal ataxia, Episodic ataxia, Ataxia, Dysmetria, Hypotonia, Episodic generalized ... |
OMIM:601338 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Progressive spastic paraplegia, Cognitive impairment, Progressive gait ataxia, Dementia, Progress... |
ORPHA:513436 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Spasticity, Generalized hypotonia, Atrophy/Degeneration affecting the brainstem, Hypotonia, Dystonia |
OMIM:616277 |
Frontonasal Dysplasia 1 |
|
Hypoplastic frontal sinuses, Wide nasal bridge, Median cleft lip, Hypoplasia of the maxilla, Cata... |
OMIM:136760 |
Metachromatic Leukodystrophy |
|
Chorea, Spastic tetraplegia, Generalized hypotonia, Gait disturbance, Emotional lability, Ataxia,... |
OMIM:250100 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Mitral valve... |
ORPHA:730 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Frontotemporal dementia, Gait disturbance, Dementia, Loss of ambulation, Dystonia |
OMIM:167320 |
Dystonia 34, Myoclonic |
|
Writer's cramp, Torticollis, Hand tremor, Impaired tandem gait, Head tremor, Dystonia |
OMIM:619724 |
Choreoacanthocytosis |
|
Progressive choreoathetosis, Aggressive behavior, Dementia, Emotional lability, Self-mutilation o... |
OMIM:200150 |
Perry Syndrome |
|
Frontotemporal dementia, Akinesia, Suicidal ideation, Rigidity, Apathy, Short stepped shuffling g... |
OMIM:168605 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Wide nasal bridge, Prominence of the premaxilla, Abnormal palate morphology, Narrow mouth, Malar ... |
ORPHA:2412 |
Postencephalitic Parkinsonism |
|
Tremor by anatomical site, Abnormal substantia nigra morphology, Paresthesia, Akinesia, Abnormal ... |
ORPHA:97349 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Inability to walk, Truncal ataxia, Rigidity, Choreoathetosis, Hypotonia,... |
OMIM:618877 |
Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Juvenile cataract, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hypotonia, Spasticity, Choreoathetosis, Dystonia |
OMIM:616034 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Narrow mouth, Short nose |
ORPHA:1529 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Progressive cerebellar ataxia, Dystonia, Substantia nigra hypointensity on susceptibility-weighte... |
OMIM:618868 |
Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Cognitive impairment, Dysdiadochokinesis, Truncal ataxia, Choreoathet... |
ORPHA:101 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
Aicardi-Goutieres Syndrome 2 |
|
Dystonia, Spastic paraplegia |
OMIM:610181 |
Friedreich Ataxia |
|
Gait ataxia, Chorea, Spasticity, Gait imbalance, Falls, Inability to walk, Impaired visually enha... |
ORPHA:95 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Pursed lips, Malar flattening, Aglossia |
OMIM:241310 |
Pontocerebellar Hypoplasia Type 2 |
|
Spasticity, Hypoplasia of the brainstem, Hypoplasia of the ventral pons, Abnormal cortical gyrati... |
ORPHA:2524 |
Joubert Syndrome 28 |
|
Generalized hypotonia, Molar tooth sign on MRI, Ataxia |
OMIM:617121 |
Developmental And Epileptic Encephalopathy 16 |
|
Generalized hypotonia, Dystonia, Severe muscular hypotonia |
OMIM:615338 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Impaired vibration sensation in the lower limbs, Spasticity, Postural tremor, Spastic dysarthria,... |
ORPHA:447896 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Generalized hypotonia, Dystonia, Difficulty walking |
ORPHA:306669 |
Mucolipidosis Iv |
|
Spastic tetraplegia, Generalized hypotonia, Hypotonia, Progressive neurologic deterioration, Hype... |
OMIM:252650 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hypotonia, Dystonia |
ORPHA:139406 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Laryngeal dystonia, Anxiety, Dystonia |
OMIM:616398 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Spasticity, Limb hypertonia, Choreoathetosis, Ataxia, Axial hypotonia, Dystonia |
OMIM:615905 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Spasticity, Cognitive impairment, Truncal ataxia, Ataxia, Neonatal hypotonia, Dystonia |
OMIM:252011 |
Ataxia With Vitamin E Deficiency |
|
Dysdiadochokinesis, Gait disturbance, Ataxia, Positive Romberg sign, Short term memory impairment... |
OMIM:277460 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Tremor by anatomical site, Falls, Rigidity, Freezing of gait, Dementia, Focal dyst... |
ORPHA:99750 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Chorea, Falls, Rigidity, Oculogyric crisis, Choreoathetosis, Ataxia, Hypotonia, Hypertonia, Opist... |
ORPHA:13 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Axial hypotonia, Choreoathetosis, Dystonia, Severe muscular hypotonia |
OMIM:614932 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Generalized hypotonia, Ataxia, Hypotonia, Axial hypotonia, Irritability, Dystonia |
OMIM:618226 |
Multiple System Atrophy, Cerebellar Type |
|
Gait ataxia, Postural tremor, Resting tremor, Rigidity, Apathy, Limb ataxia, Axial dystonia, Anxi... |
ORPHA:227510 |
Aicardi-Goutieres Syndrome 3 |
|
Spasticity, Hypotonia, Dystonia, Generalized hypotonia |
OMIM:610329 |
Continuous Spikes And Waves During Sleep |
|
Motor deterioration, Dystonia, Aggressive behavior, Cognitive impairment |
ORPHA:725 |
Classic Galactosemia |
|
Gait imbalance, Anxiety, Postural tremor, Gait disturbance, Ataxia, Delayed puberty, Decreased se... |
ORPHA:79239 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Rigidity, Substantia nigra gliosis, Short stepped shuffling gait, Dementia, Tremo... |
OMIM:168600 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Megalocornea, Long philtrum, Wide nasal bridge, Delayed eruption of teeth, Evert... |
ORPHA:915 |
Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Cognitive impairment, Akinesia, Rigidity, Torticollis, Apathy... |
ORPHA:48818 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Gait disturbance, Dementia, Frog-leg posture, Difficulty walking, Hypertonia... |
ORPHA:79244 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Tremor, Axial hypotonia, Hypertonia, Unsteady gait, Dystonia |
OMIM:617435 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Marshall Syndrome |
|
Thick upper lip vermilion, High palate, Long philtrum, Hypoplastic frontal sinuses, Wide nasal br... |
ORPHA:560 |
Infantile Neuroaxonal Dystrophy |
|
Spasticity, Progressive spasticity, Gait disturbance, Psychomotor deterioration, Emotional labili... |
ORPHA:35069 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Upper limb hypertonia, Impaired proprioception, Limb dystonia, Impaired vibratory sensation |
ORPHA:319199 |
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 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Apathy, Generalized hypotonia, Dementia, Spastic tetrapares... |
OMIM:272750 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Chorea, Spasticity, Inability to walk, Generalized hypotonia, Ataxia, Hypotonia, Progressive neur... |
ORPHA:70472 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperinsulinemia, Spasticity, Cognitive impairment, Limb dystonia, Ataxia, Tremor, P... |
ORPHA:363400 |
Kaya-Barakat-Masson Syndrome |
|
Spasticity, Spastic tetraplegia, Limb dystonia, Generalized hypotonia, Axial hypotonia, Irritability |
OMIM:619125 |
Mohr-Tranebjaerg Syndrome |
|
Shuffling gait, Inability to walk, Dementia, Focal dystonia, Tremor, Oromandibular dystonia, Ment... |
ORPHA:52368 |
16P11.2P12.2 Microduplication Syndrome |
|
Dystonia |
ORPHA:261204 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Truncal ataxia, Hypotonia, Progressive neurologic deterioration, Head titubation, Irritability, D... |
ORPHA:88639 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Mandibular prognathia, Short philtrum |
ORPHA:93945 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617562 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Gait imbalance, Social and occupational deterioration, Falls, Akinesia, Axial dyst... |
ORPHA:240071 |
Young-Onset Parkinson Disease |
|
Spasticity, Cognitive impairment, Gait imbalance, Frontal lobe dementia, Rigidity, Apathy, Dement... |
ORPHA:2828 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Cognitive impairment, Falls, Rigidity, Dementia, Tremor, Dystonia, Unsteady gait, ... |
ORPHA:683 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Iron accumulation in substantia nigra, Spasticity, Tip-toe gait, Rigidity, Limb dystonia, Choreoa... |
ORPHA:157850 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Rigidity, Focal dystonia, Tremor, Mental deterioration, Memory impai... |
ORPHA:240103 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Chorea, Spasticity, Blepharospasm, Rigidity, Gait disturbance, Ataxia, Loss of ambulation, Hypoto... |
OMIM:617282 |
Partington Syndrome |
|
Limb dystonia, Gait disturbance, Lower limb spasticity |
ORPHA:94083 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Multiple System Atrophy, Parkinsonian Type |
|
Gait ataxia, Postural tremor, Resting tremor, Rigidity, Apathy, Axial dystonia, Anxiety, Progress... |
ORPHA:98933 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Dysdiadochokinesis, Spastic dysarthria, Ataxia, Spastic paraparesis, Dysmetria, Dystonia |
ORPHA:313772 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Hypoplasia of the maxilla, Thin upper lip vermilion, Widely-spaced incisors, Smooth philtrum |
OMIM:618737 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cognitive impairment, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Axial hypotonia, Dyst... |
ORPHA:70594 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Ataxia, Dysmetria, Dystonia, Difficulty walking, Lower limb spasticity, Infantile axial hypotonia... |
ORPHA:438114 |
Coach Syndrome 3 |
|
Generalized hypotonia, Molar tooth sign on MRI, Ataxia |
OMIM:619113 |
Galactosemia |
|
Gait imbalance, Cognitive impairment, Postural tremor, Gait disturbance, Ataxia, Decreased serum ... |
ORPHA:352 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Dystonia, Generalized hypotonia, Ataxia |
OMIM:618416 |
Parkinsonian-Pyramidal Syndrome |
|
Spasticity, Cognitive impairment, Shuffling gait, Rigidity, Substantia nigra gliosis, Dementia, D... |
ORPHA:171695 |
Autosomal Dominant Cerebellar Ataxia |
|
Chorea, Somatic sensory dysfunction, Spasticity, Cognitive impairment, Akinesia, Postural tremor,... |
ORPHA:99 |
Developmental And Epileptic Encephalopathy 64 |
|
Chorea, Limb hypertonia, Inability to walk, Generalized hypotonia, Dystonia |
OMIM:618004 |
Baralle-Macken Syndrome |
|
Spasticity, Dystonia, Neonatal hypotonia, Inability to walk |
OMIM:619255 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Gait ataxia, Impaired distal vibration sensation, Truncal ataxia, Rigidity, Limb ataxia, Positive... |
OMIM:258450 |
Familial Paroxysmal Ataxia |
|
Torticollis, Dystonia, Ataxia |
ORPHA:97 |
Christianson Syndrome |
|
Truncal ataxia, Dystonia, Gait ataxia, Conspicuously happy disposition |
ORPHA:85278 |
Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla |
OMIM:259610 |
Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Posterior Y-sutural cataract, ... |
ORPHA:50814 |
Harel-Yoon Syndrome |
|
Spasticity, Inability to walk, Ataxia, Hypotonia, Axial hypotonia, Dystonia |
OMIM:617183 |
Spinocerebellar Ataxia Type 6 |
|
Gait ataxia, Blepharospasm, Unsteady gait, Progressive cerebellar ataxia, Dystonia, Intention tremor |
ORPHA:98758 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency, Generalized dystonia |
OMIM:619025 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypotonia, Dystonia, Ataxia |
OMIM:246900 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:93950 |
Leukodystrophy, Hypomyelinating, 9 |
|
Ataxia, Dysmetria, Axial hypotonia, Lower limb spasticity, Dystonia, Intention tremor |
OMIM:616140 |
Jaberi-Elahi Syndrome |
|
Gait ataxia, Inability to walk, Appendicular spasticity, Choreoathetosis, Dysmetria, Hypotonia, T... |
OMIM:617988 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Leukodystrophy, Hypomyelinating, 15 |
|
Spasticity, Ataxia, Loss of ambulation, Athetosis, Dystonia, Intention tremor |
OMIM:617951 |
Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Developmental glaucoma, Megalocornea, Delayed eruption of primary teeth... |
ORPHA:2409 |
Pontocerebellar Hypoplasia, Type 2B |
|
Chorea, Spasticity, Hypoplasia of the brainstem, Limb hypertonia, Simplified gyral pattern, Hypot... |
OMIM:612389 |
Joubert Syndrome 7 |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Generalized hypotonia, Ataxia, Brainstem dy... |
OMIM:611560 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Dextrocardia, Transposition of ... |
OMIM:314390 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Nephropathy, Abnormal renal physiology, Cardiomyopathy |
ORPHA:85447 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... |
OMIM:313500 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Dystonia, Generalized neonatal hypotonia |
ORPHA:352596 |
Sulfite Oxidase Deficiency, Isolated |
|
Choreoathetosis, Generalized hypotonia, Ataxia, Axial hypotonia, Hypertonia, Generalized dystonia... |
OMIM:272300 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Tip-toe gait, Cognitive impairment, Inability to walk, Gait disturbance, Opisthotonus... |
ORPHA:216866 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, Hypothyroidism, Spasticity, Generalized hypotonia, Dystonia |
OMIM:613970 |
Partington Syndrome |
|
Limb dystonia, Focal dystonia, Lower limb spasticity |
OMIM:309510 |
Alzheimer Disease 3 |
|
Memory impairment, Gait disturbance, Dementia, Spastic tetraparesis, Dystonia |
OMIM:607822 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Choreoathetosis, Episodic ataxia, Generalized hypotonia, Hypotonia, Tremor, Dystonia |
OMIM:312170 |
Machado-Joseph Disease Type 3 |
|
Spasticity, Degeneration of anterior horn cells, Progressive gait ataxia, Substantia nigra gliosi... |
ORPHA:276244 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Corneal opacity |
OMIM:166300 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Hypoplasia of the zygomatic bone, Micrognathia, Carious teeth, Supernumerary tooth |
ORPHA:3145 |
Lujan-Fryns Syndrome |
|
High palate, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Dental crowding, Abnormalit... |
ORPHA:776 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torticollis, Choreoa... |
OMIM:608643 |
X-Linked Creatine Transporter Deficiency |
|
Chorea, Ataxia, Hypotonia, Hypertonia, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Dystonia 7, Torsion |
|
Blepharospasm, Writer's cramp, Torticollis, Hand tremor, Torsion dystonia, Oromandibular dystonia |
OMIM:602124 |
Developmental And Epileptic Encephalopathy 1 |
|
Choreoathetosis, Spastic tetraparesis, Axial hypotonia, Hypertonia, Dystonia |
OMIM:308350 |
Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Spasticity, Progressive gait ataxia, Generalized hypotonia, Dementia, Emotional lability,... |
ORPHA:309271 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Chorea, Spasticity, Choreoathetosis, Axial hypotonia, Hypertonia, Dystonia |
OMIM:618451 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Truncal ataxia, Simplified gyral pattern, Generalized hypotonia, Hypotonia, Dystonia, Intention t... |
OMIM:614407 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Short philtrum, Diastema, Hypoplasia of the maxilla, Accessory oral frenulum |
OMIM:619142 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Molar tooth sign on MRI, Inability to walk, Ataxia, Hypotonia |
OMIM:617563 |
Autosomal Recessive Ataxia, Beauce Type |
|
Spasticity, Gait disturbance, Ataxia, Dysmetria, Neonatal hypotonia, Lower limb spasticity, Impai... |
ORPHA:88644 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Spasticity, Inability to walk, Limb hypertonia, Ataxia, Dysmetria, Axial hypotonia, Dystonia |
OMIM:618087 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Leg dystonia, Anxiety |
OMIM:606324 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Hypotonia, Frontal polym... |
OMIM:608629 |
Parkinson Disease 14, Autosomal Recessive |
|
Frontotemporal dementia, Aggressive behavior, Spasticity, Resting tremor, Rigidity, Upper limb po... |
OMIM:612953 |
Rasmussen Subacute Encephalitis |
|
Cognitive impairment, Inability to walk, Hemidystonia, Emotional lability, Irritability, Memory i... |
ORPHA:1929 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Spasticity, Tip-toe gait, Progressive gait ataxia, Generalized hypotonia, Emotional ... |
ORPHA:309256 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... |
OMIM:620135 |
Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Choreoathetosis, Gait disturbance, Ataxia, Hypotonia, Tremor, Dystonia |
ORPHA:765 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Spasticity, Dysdiadochokinesis, Emotional lability, Dysmetria, Hypertonia, M... |
OMIM:610217 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... |
ORPHA:1946 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Progressive spastic paraplegia, Progressive spastic paraparesis, Falls, Anxiety, Progressive gait... |
ORPHA:329308 |
Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Resting tremor, Rigidity, Gait disturbance, Dementia, Loss of ambulation, Mental ... |
OMIM:168601 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Inability to walk, Choreoathetosis, Hypotonia, Tremor, Dystonia |
OMIM:617664 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, Mandibular prognathia, High palate |
OMIM:300676 |
Gm1-Gangliosidosis, Type Iii |
|
Dystonia, Ataxia |
OMIM:230650 |
Hereditary Methemoglobinemia |
|
Spasticity, Spastic tetraplegia, Limb dystonia, Hypertonia, Athetosis |
ORPHA:621 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Simplified gyral pattern, Spastic tetraparesis, Hypotonia, Axial hypotonia, Dystonia |
OMIM:617668 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:1873 |
Joubert Syndrome With Renal Defect |
|
Molar tooth sign on MRI, Gait disturbance, Ataxia, Hypotonia, Tremor, Abnormality of the hypothal... |
ORPHA:220497 |
Machado-Joseph Disease Type 1 |
|
Spasticity, Progressive gait ataxia, Substantia nigra gliosis, Dystonia, Progressive cerebellar a... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Spasticity, Progressive gait ataxia, Substantia nigra gliosis, Dystonia, Progressive cerebellar a... |
ORPHA:276241 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Progressive gait ataxia, Limb ataxia, I... |
OMIM:606002 |
Mohr-Tranebjaerg Syndrome |
|
Spasticity, Tremor, Dystonia, Mental deterioration |
OMIM:304700 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor, Hypogonadotropic hypogona... |
OMIM:614381 |
Spinocerebellar Ataxia Type 3 |
|
Progressive cerebellar ataxia, Dystonia |
ORPHA:98757 |
Allan-Herndon-Dudley Syndrome |
|
Spasticity, Spastic tetraplegia, Abnormality of thyroid physiology, Limb hypertonia, Choreoatheto... |
ORPHA:59 |
Machado-Joseph Disease |
|
Spasticity, Truncal ataxia, Rigidity, Limb ataxia, Ataxia, Dementia, Impaired vibratory sensation... |
OMIM:109150 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spasticity, Hypoplasia of the brainstem, Spastic ataxia, Inability to walk, Spastic diplegia, Sim... |
ORPHA:300570 |
Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Generalized hypotonia, Molar tooth sign on MRI, Ataxia |
OMIM:618161 |
Joubert Syndrome 6 |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ata... |
OMIM:610688 |
Cimdag Syndrome |
|
Chorea, Spasticity, Hypogonadism, Ataxia, Hypotonia, Pontocerebellar atrophy, Dystonia, Polymicro... |
OMIM:619273 |
Episodic Ataxia, Type 2 |
|
Progressive cerebellar ataxia, Dystonia, Paresthesia, Episodic ataxia |
OMIM:108500 |
Dystonia 24 |
|
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia |
OMIM:615034 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Spasticity, Simplified gyral pattern, Generalized hypotonia, Loss of ambulation, Progressive neur... |
OMIM:618253 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Limb dystonia, Torticollis, Upper limb postural tremor, Hand tremor, Oromandibular... |
ORPHA:420485 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Spasticity, Progressive gait ataxia, Generalized hypotonia, Emotional lability, Decerebrate rigid... |
ORPHA:309263 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Hypertonia, Infantile muscular hypotonia |
ORPHA:26792 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spasticity, Spastic tetraplegia, Spastic hemiparesis, Hypotonia, Dystonia |
OMIM:619616 |
Bilateral Generalized Polymicrogyria |
|
Spasticity, Self-injurious behavior, Spastic tetraplegia, Oculogyric crisis, Axial hypotonia, Dys... |
ORPHA:208447 |
Dystonia-Aphonia Syndrome |
|
Cognitive impairment, Gait disturbance, Oromandibular dystonia, Anxiety, Unsteady gait, Generaliz... |
ORPHA:412217 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Gait imbalance, Postural tremor, Choreoathetosis, Ataxia, Head tremo... |
ORPHA:64753 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Chorea, Resting tremor, Infantile muscular hypotonia, Titubation, Gait disturbance, ... |
ORPHA:225147 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Gait ataxia, Hypothyroidism, Inertia, Abnormal brainstem morphology, Rigidity, Gait disturbance, ... |
ORPHA:93256 |
Usher Syndrome Type 2 |
|
Microdontia, Iris hypopigmentation, Cataract, Carious teeth, Abnormality of dental color, Abnorma... |
ORPHA:231178 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, ... |
OMIM:608836 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Short nose, Hypoplasia of the maxilla, Accessory oral frenulum, Malar flattening, C... |
ORPHA:79113 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Akinesia, Resting tremor, Rigidity, Limb dystonia, Dementia, Mental deterioration |
OMIM:616840 |
Myopathy With Extrapyramidal Signs |
|
Chorea, Perisylvian polymicrogyria, Choreoathetosis, Ataxia, Hypotonia, Tremor, Difficulty walkin... |
OMIM:615673 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:618247 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening, Rieger anomaly, Abnormally prominent line of Schwalbe |
OMIM:109120 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Facial hypotonia, Anxiety, Dystonia, Broad-based gait, Seve... |
ORPHA:438216 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cognitive impairment, Dysdiadochokinesis, Spastic paraplegia, Spastic tetraparesis, Dysmetria, Di... |
ORPHA:171629 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Spasticity, Inability to walk, Generalized hypotonia, Hypotonia, Dystonia |
OMIM:614739 |
Paragangliomas 1 |
|
Glomus jugular tumor, Episodic paroxysmal anxiety, Elevated circulating catecholamine level, Glom... |
OMIM:168000 |
Hengel-Maroofian-Schols Syndrome |
|
Spasticity, Gait imbalance, Inability to walk, Hypotonia, Dystonia |
OMIM:619641 |
Liang-Wang Syndrome |
|
Axial hypotonia, Dystonia, Ataxia |
OMIM:618729 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Hypotonia, Choreoathetosis, Dystonia |
ORPHA:289916 |
Meacham Syndrome |
|
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Enlarged kidney, ... |
OMIM:608978 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Spasticity, Dystonia, Ataxia |
OMIM:617341 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Conjunctival hyperemia, Wide nasal bridge |
OMIM:167730 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Generalized hypotonia, Dystonia |
OMIM:618230 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Short nose |
OMIM:122880 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Atrial septal defect, Hype... |
OMIM:617303 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Hypotonia, Molar tooth sign on MRI |
OMIM:617622 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Aggressive behavior, Hypoplasia of the brainstem, Spastic tetraplegia, Limb hypertonia, Limb dyst... |
ORPHA:572798 |
Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Gait disturbance, Ataxia, Hypotonia, Tremor, Abnormality of the hypothal... |
ORPHA:220493 |
Pelizaeus-Merzbacher Disease |
|
Spasticity, Choreoathetosis, Gait disturbance, Ataxia, Hypotonia, Dystonia |
ORPHA:702 |
Paragangliomas 3 |
|
Glomus jugular tumor, Episodic paroxysmal anxiety, Elevated circulating catecholamine level, Chem... |
OMIM:605373 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, At... |
OMIM:208540 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Conjunctivitis, Cleft upper lip, Wide nasal bridge, Widely spaced teeth, Selective... |
OMIM:106260 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Enamel hypoplasia, Cataract, Carious teeth, Keratitis |
OMIM:612843 |
Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Akinesia, Resting tremor, Rigidity, Apathy, Dementia, Mental deterioration, Low f... |
ORPHA:411602 |
Rett Syndrome, Congenital Variant |
|
Chorea, Spasticity, Simplified gyral pattern, Irritability, Generalized hypotonia, Neonatal hypot... |
OMIM:613454 |
Joubert Syndrome 40 |
|
Hypotonia, Molar tooth sign on MRI |
OMIM:619582 |
Rett Syndrome |
|
Gait ataxia, Gait apraxia, Spasticity, Truncal ataxia, Motor deterioration, Dystonia |
OMIM:312750 |
Acrodysostosis |
|
Mandibular prognathia, Wide nasal bridge, Delayed eruption of teeth, Short nose, Hypoplasia of th... |
ORPHA:950 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI |
OMIM:300804 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Generalized hypotonia, Ataxia, Hypotonia, Hypertonia |
OMIM:612291 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Cognitive impairment, Opisthotonus, Paucity of anterior hor... |
ORPHA:79139 |
Parkinson Disease 20, Early-Onset |
|
Shuffling gait, Rigidity, Gait disturbance, Short stepped shuffling gait, Tremor, Mental deterior... |
OMIM:615530 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Pontocerebellar Hypoplasia, Type 17 |
|
Patent ductus arteriosus, Hypoplasia of the brainstem, Limb hypertonia, Spastic tetraplegia, Paro... |
OMIM:619909 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Chorea, Cognitive impairment, Rigidity, Limb dystonia, Dementia, Ataxia, Tremor, Athetosis, Dysto... |
ORPHA:25 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Chorea, Generalized dystonia, Aggressive behavior, Spastic tetraplegia, Ataxia, Axia... |
OMIM:618321 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow |
ORPHA:2662 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Inability to walk, Ataxia, Hypotonia, Dystonia, Polymicrogyria |
ORPHA:79243 |
Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Abnormal palate morphology, Mandibular prognathia |
ORPHA:1540 |
Dystonia, Juvenile-Onset |
|
Leg dystonia, Oculogyric crisis, Loss of ambulation, Generalized dystonia |
OMIM:607371 |
Multiple System Atrophy |
|
Gait ataxia, Resting tremor, Postural tremor, Rigidity, Axial dystonia, Progressive cerebellar at... |
ORPHA:102 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis |
OMIM:608022 |
Birk-Landau-Perez Syndrome |
|
Limb hypertonia, Choreoathetosis, Limb ataxia, Facial hypotonia, Difficulty walking, Pachygyria, ... |
OMIM:617595 |
Combined Malonic And Methylmalonic Acidemia |
|
Dystonia, Memory impairment, Axial hypotonia |
ORPHA:289504 |
Slc35A2-Cdg |
|
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Inability to ... |
ORPHA:356961 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Aggressive behavior, Ataxia, Hypotonia, Anxiety, Dystonia |
OMIM:616977 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, High palate |
ORPHA:85279 |
Supranuclear Palsy, Progressive, 2 |
|
Retrocollis, Frontolimbic dementia, Falls, Akinesia, Gait imbalance, Postural tremor, Rigidity, A... |
OMIM:609454 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Elevated circulat... |
OMIM:610978 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, High palate, Prominent frontal sinuses, Micrognathia, Oligodontia, Dental crow... |
OMIM:170390 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, High palate, Wide nasal bridge, Short nose |
OMIM:218000 |
Tay-Sachs Disease |
|
Exaggerated startle response, Precocious puberty, Inability to walk, Progressive spasticity, Gene... |
ORPHA:845 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Long philtrum, Micrognathia, Short philtrum, Short nose, Hypoplasia of the... |
ORPHA:439822 |
Joubert Syndrome 14 |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Generalized hypotonia, Ataxia, Hypotonia, I... |
OMIM:614424 |
Gaucher Disease Type 2 |
|
Spasticity, Dystonia |
ORPHA:77260 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Iris coloboma, Narrow palate, Conjunctivitis |
ORPHA:207 |
Lesch-Nyhan Syndrome |
|
Spasticity, Self-injurious behavior, Choreoathetosis, Testicular atrophy, Hypotonia, Opisthotonus... |
OMIM:300322 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Limb dystonia, Choreoathetosis, Generalized hypotonia, Axial hypotonia, Lower limb hypertonia |
ORPHA:319514 |
Treacher-Collins Syndrome |
|
Retrognathia, Cleft upper lip, High palate, Wide mouth, Abnormality of the dentition, Wide nasal ... |
ORPHA:861 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Spasticity, Aggressive behavior, Gait disturbance, Hypotonia, Neonatal hypotonia, Hypertonia, Axi... |
OMIM:300352 |
Supranuclear Palsy, Progressive, 1 |
|
Retrocollis, Frontolimbic dementia, Falls, Akinesia, Gait imbalance, Rigidity, Limb dystonia, Apa... |
OMIM:601104 |
Dysostosis, Stanescu Type |
|
Macroglossia, Hypoplasia of the maxilla, Abnormal palate morphology, Hypoplasia of the zygomatic ... |
ORPHA:1798 |
Coffin-Lowry Syndrome |
|
Narrow palate, High palate, Wide mouth, Widely spaced teeth, Delayed eruption of teeth, Thick low... |
ORPHA:192 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Simplified gyral pattern, Hypoplasia of the pons, Axial hypotonia, Dystonia |
OMIM:617669 |
Alg3-Cdg |
|
Spastic tetraparesis, Hypoplasia of the pons, Hypotonia, Hypertonia, Abnormality of the endocrine... |
ORPHA:79321 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Spasticity, Inability to walk, Ataxia, Hypotonia, Pachygyria, Athetosis, Dystonia |
ORPHA:357058 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Hypoplasia of the maxilla, Long philtrum, Microretrognathia, Thick vermilion border |
ORPHA:228396 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... |
OMIM:194080 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Hypodontia, Bifid uvula, Taurodon... |
OMIM:129400 |
Pycnodysostosis |
|
Enamel hypoplasia, Dental malocclusion, Obtuse angle of mandible, High palate, Delayed eruption o... |
ORPHA:763 |
Niemann-Pick Disease, Type C1 |
|
Gait ataxia, Spasticity, Generalized hypotonia, Dementia, Ataxia, Hypotonia, Dystonia |
OMIM:257220 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia |
OMIM:250850 |
Gorlin-Chaudhry-Moss Syndrome |
|
Oligodontia, Hypoplasia of the maxilla, Astigmatism, Sclerocornea, Abnormality of the dentition |
ORPHA:2095 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcin... |
OMIM:130650 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Ataxia, Dystonia, Action tremor, Lower limb spasticity, Neonatal hypotonia, Atrop... |
ORPHA:66634 |
Metachromatic Leukodystrophy |
|
Tip-toe gait, Progressive spasticity, Gait disturbance, Emotional lability, Dementia, Ataxia, Tre... |
ORPHA:512 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology |
ORPHA:93262 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Hypoplasia of the pons, Dystonia, Opisthotonus |
OMIM:277470 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Microdontia, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Microglossi... |
ORPHA:1307 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Progressive spastic paraplegia, Paroxysmal dystonia, Scissor gait, Loss of ambulation, Lower limb... |
ORPHA:466722 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Tremor, Dystonia, Generalized hypotonia, Spastic diplegia |
ORPHA:480907 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria |
ORPHA:251004 |
Coach Syndrome 1 |
|
Spasticity, Molar tooth sign on MRI, Generalized hypotonia, Ataxia, Hypotonia, Dystonia |
OMIM:216360 |
Elsahy-Waters Syndrome |
|
Dental malocclusion, Agenesis of incisor, Mandibular prognathia, High palate, Long philtrum, Wide... |
OMIM:211380 |
Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... |
OMIM:104570 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Deep philtrum, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Thin upper l... |
OMIM:309520 |
Nager Syndrome |
|
Non-midline cleft lip, Wide mouth, Micrognathia, Hypoplasia of the maxilla, Abnormal palate morph... |
ORPHA:245 |
Lipoyltransferase 1 Deficiency |
|
Spastic tetraparesis, Hypotonia, Dystonia, Axial hypotonia |
OMIM:616299 |
8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Wide nasal bridge, Submucous cleft hard palate, Hypoplasia of the maxilla, Abnorma... |
ORPHA:178303 |
Hypermanganesemia With Dystonia 1 |
|
Rigidity, Spastic paraparesis, Tremor, Steppage gait, Dystonia |
OMIM:613280 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hypotonia, Choreoathetosis, Dystonia |
ORPHA:79312 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Siddiqi Syndrome |
|
Limb dystonia |
OMIM:618635 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Short nose |
OMIM:614261 |
Glycogen Storage Disease Ia |
|
Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Focal segmental... |
OMIM:232200 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypotonia, Dystonia, Generalized hypotonia, Hypertonia |
OMIM:614654 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Abnormality of neuronal migration, Ataxia, Hypotonia, Abnormality of the... |
ORPHA:2318 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Focal segmental... |
OMIM:232220 |
Hsd10 Disease, Infantile Type |
|
Spastic diplegia, Choreoathetosis, Spastic tetraparesis, Loss of ambulation, Hypotonia, Dystonia |
ORPHA:391428 |
Andersen-Tawil Syndrome |
|
High palate, Wide nasal bridge, Micrognathia, Oligodontia, Hypoplasia of the maxilla, Thin upper ... |
ORPHA:37553 |
Gm1 Gangliosidosis |
|
Patent ductus arteriosus, Spasticity, Cognitive impairment, Generalized hypotonia, Gait disturban... |
ORPHA:354 |
Developmental And Epileptic Encephalopathy 86 |
|
Generalized hypotonia, Dystonia |
OMIM:618910 |
Caribbean Parkinsonism |
|
Frontal lobe dementia, Progressive gait ataxia, Rigidity, Dementia, Action tremor, Dystonia |
ORPHA:97355 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Micrognathia, Short philtrum, Hypoplasia of t... |
OMIM:216550 |
Angelman Syndrome |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Macroglossia, Hypoplasia of the maxilla, ... |
OMIM:105830 |
Pfeiffer Syndrome |
|
Mandibular prognathia, High palate, Short nose, Hypoplasia of the maxilla, Dental crowding |
OMIM:101600 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
Cowden Syndrome 5 |
|
High palate, Micrognathia, Hypoplasia of the maxilla, Cataract, Narrow mouth, Furrowed tongue |
OMIM:615108 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
Mohr Syndrome |
|
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Median cleft lip, Hypo... |
OMIM:252100 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Progressive spastic quadriplegia, Neonatal hypotonia, Dystonia, Nonprogressive c... |
ORPHA:431361 |
Oromandibular Dystonia |
|
Blepharospasm, Lingual dystonia, Limb dystonia, Torticollis, Laryngeal dystonia, Generalized dyst... |
ORPHA:93958 |
Glutaric Acidemia I |
|
Spastic diplegia, Rigidity, Choreoathetosis, Generalized hypotonia, Hypotonia, Opisthotonus, Dyst... |
OMIM:231670 |
Leigh Syndrome With Cardiomyopathy |
|
Chorea, Spasticity, Abnormal brainstem morphology, Ataxia, Hypertonia, Mental deterioration, Dyst... |
ORPHA:70474 |
Goldberg-Shprintzen Syndrome |
|
Megalocornea, Corneal erosion, Wide nasal bridge, Oligodontia, Short philtrum, Everted lower lip ... |
OMIM:609460 |
Crouzon Syndrome |
|
Conjunctivitis, Mandibular prognathia, High palate, Hypoplasia of the maxilla, Dental crowding, K... |
OMIM:123500 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Cleft palate |
OMIM:108721 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Spasticity, Generalized hypotonia, Dystonia |
OMIM:617873 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Biventricular hypertrophy, Hypertrophic cardiomyopathy, In... |
OMIM:261740 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Impaired vibration sensation in the lower limbs, Paresthesia, Writer's cramp, Gait disturbance, L... |
ORPHA:324442 |
Rett Syndrome |
|
Increased serum leptin, Inability to walk, Gait disturbance, Difficulty walking, Dystonia, Infant... |
ORPHA:778 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Spasticity, Dystonia, Dementia |
OMIM:607236 |
Weill-Marchesani Syndrome 1 |
|
Narrow palate, Abnormality of dental morphology, Ectopia lentis, Hypoplasia of the maxilla, Shall... |
OMIM:277600 |
Leber Optic Atrophy |
|
Postural tremor, Dystonia, Ataxia |
OMIM:535000 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... |
OMIM:618280 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Dystonia |
OMIM:300475 |
Joubert Syndrome 22 |
|
Generalized hypotonia, Molar tooth sign on MRI |
OMIM:615665 |
Joubert Syndrome 1 |
|
Hypoplasia of the brainstem, Aggressive behavior, Molar tooth sign on MRI, Elongated superior cer... |
OMIM:213300 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Hypotonia, Mental deterioration, Opisthotonus, Dystonia, Severe muscular hypotonia |
OMIM:616672 |
Frontorhiny |
|
Bifid tongue, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Iris coloboma, Cataract, Cl... |
ORPHA:391474 |
Aicardi-Goutieres Syndrome 1 |
|
Hypothyroidism, Spasticity, Diabetes insipidus, Inability to walk, Axial hypotonia, Dystonia, Sel... |
OMIM:225750 |
Cowden Syndrome 6 |
|
High palate, Micrognathia, Hypoplasia of the maxilla, Cataract, Narrow mouth, Furrowed tongue |
OMIM:615109 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Simplified gyral pattern, Spasticity, Hypotonia, Dystonia |
OMIM:619286 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Chorea, Inability to walk, Truncal ataxia, Generalized hypotonia, Ataxia, Hypotonia, Tremor, Diff... |
OMIM:615356 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Hypoplasia of the pons, Dysmetria, Head titubation, Dystonia, Intention tremor, Polymicro... |
OMIM:619708 |
Tyrosinemia, Type I |
|
Enlarged kidney, Glomerular sclerosis, Hypertrophic cardiomyopathy, Hepatomegaly, Nephrocalcinosi... |
OMIM:276700 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Wide nasal bridge, Hypodontia, Short nose, Hypoplasia of the maxilla, Curved lin... |
OMIM:305400 |
Developmental And Epileptic Encephalopathy 84 |
|
Chorea, Spasticity, Generalized hypotonia, Axial hypotonia, Opisthotonus, Dystonia |
OMIM:618792 |
Kcnq2-Related Epileptic Encephalopathy |
|
Hypotonia, Dystonia, Inability to walk |
ORPHA:439218 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent foramen ovale, Nephrotic syndrome, Enlarged kidney, Atrial septal defect, Hepatosplenomega... |
ORPHA:505248 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Gait ataxia, Hypothyroidism, Premature thelarche, Spastic diplegia, Spastic tetraplegia, Generali... |
OMIM:616878 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the tongue, High, narrow palate, Micrognathia, Short philtrum, Hypoplasia o... |
ORPHA:193 |
Pycnodysostosis |
|
Narrow palate, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Absent frontal sinuse... |
OMIM:265800 |
Aicardi-Goutieres Syndrome 4 |
|
Spasticity, Dystonia |
OMIM:610333 |
Niemann-Pick Disease Type C |
|
Chorea, Aggressive behavior, Cognitive impairment, Progressive gait ataxia, Limb dystonia, Apathy... |
ORPHA:646 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Enlarged kidney, Hepatosplenomegaly, Multiple renal cysts, Splenomegaly |
ORPHA:464329 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Cataract, Corneal opacity, Conjunctival hyperemia |
ORPHA:2399 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Dental malocclusion, High palate, Wide nasal bridge, Micrognathia, Hypoplasi... |
OMIM:601390 |
Distal Xq28 Microduplication Syndrome |
|
High palate, Short lingual frenulum, Thick lower lip vermilion, Hypoplasia of the maxilla, Dental... |
ORPHA:293939 |
Carpenter Syndrome 1 |
|
High palate, Micrognathia, Agenesis of permanent teeth, Microcornea, Hypoplasia of the maxilla, P... |
OMIM:201000 |
Developmental And Epileptic Encephalopathy 51 |
|
Hypotonia, Dystonia, Inability to walk |
OMIM:617339 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent ductus arteriosus, Cognitive impairment, Apathy, Generalized hypotonia, Ataxia, Hypotonia,... |
OMIM:610505 |
Martsolf Syndrome 1 |
|
High palate, Long philtrum, Micrognathia, Short philtrum, Developmental cataract, Hypoplasia of t... |
OMIM:212720 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Dysdiadochokinesis, Type II diabetes mellitus, Delayed puberty, Hypotonia, Irritability, Dystonia... |
OMIM:618891 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Spasticity, Lissencephaly, Hypotonia, Pachygyria, Axial hypotonia, Dyst... |
OMIM:251290 |
Weill-Marchesani Syndrome 2 |
|
High palate, Narrow palate, Lens luxation, Abnormality of dental morphology, Ectopia lentis, Hypo... |
OMIM:608328 |
Myhre Syndrome |
|
Mandibular prognathia, Gingival cleft, Abnormal lip morphology, Bifid uvula, Submucous cleft hard... |
ORPHA:2588 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI |
OMIM:614465 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ventricular septal defect, Pericardial effusion, Enlarged kidney, Abno... |
ORPHA:79328 |
Orofaciodigital Syndrome Type 6 |
|
Molar tooth sign on MRI, Abnormality of neuronal migration, Generalized hypotonia, Gait disturban... |
ORPHA:2754 |
Developmental And Epileptic Encephalopathy 29 |
|
Chorea, Spasticity, Blepharospasm, Limb dystonia, Axial hypotonia |
OMIM:616339 |
Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly |
OMIM:200995 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Aggressive behavior, Hemidystonia, Torticollis, Happy demeanor, Tremor, Neonatal hypotonia |
OMIM:619680 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Megalocornea, Long philtrum, Hypoplasia of the maxilla, Corneal dystrophy,... |
ORPHA:1101 |
Brain-Lung-Thyroid Syndrome |
|
Chorea, Thyroid hemiagenesis, Elevated circulating thyroid-stimulating hormone concentration, Fal... |
ORPHA:209905 |
3-Methylglutaconic Aciduria, Type Viib |
|
Spasticity, Choreoathetosis, Ataxia, Hypotonia, Tremor, Neonatal hypotonia, Opisthotonus, Dystonia |
OMIM:616271 |
Nablus Mask-Like Facial Syndrome |
|
Retrognathia, High palate, Long philtrum, Wide nasal bridge, Short nose, Everted lower lip vermil... |
OMIM:608156 |
Amyotrophic Dystonic Paraplegia |
|
Dystonia, Spastic paraplegia |
OMIM:105300 |
Premature Aging Syndrome, Penttinen Type |
|
Retrognathia, Delayed eruption of teeth, Micrognathia, Narrow philtrum, Corneal stromal edema, Sh... |
OMIM:601812 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Wide nasal bridge |
OMIM:614886 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, High palate, Micrognathia, Diastema, Hypoplasia of the maxilla, Thin upper... |
OMIM:300534 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, Ataxia, Myocardial necrosis, Abnormal midbrain morpholog... |
ORPHA:68 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia |
OMIM:613091 |
Filippi Syndrome |
|
Dystonia |
OMIM:272440 |
Meier-Gorlin Syndrome 4 |
|
Thick lower lip vermilion, Micrognathia, Narrow mouth, Hypoplasia of the maxilla |
OMIM:613804 |
Mcleod Syndrome |
|
Chorea, Impaired vibration sensation at ankles, Dystonia, Anxiety |
OMIM:300842 |
Joubert Syndrome 5 |
|
Aggressive behavior, Molar tooth sign on MRI, Generalized hypotonia, Ataxia, Hypotonia, Thickened... |
OMIM:610188 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of dental morphology, Keratoconjunctivitis sicca, Hypoplasia of the maxilla, Tooth ag... |
ORPHA:238468 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Conjunctivitis, Dental malocclusion, Wide nasal bridge, Microretrognathia, Carious teeth |
OMIM:615560 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Spasticity, Spastic diplegia, Spastic tetraplegia, Spastic tetraparesis, Hyperton... |
OMIM:619487 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Patent ductus arteriosus, Spasticity, Generalized dystonia, Limb hypertonia, Ataxia, Axial hypoto... |
OMIM:618076 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Chorea, Hypothyroidism, Dystonia, Neonatal hypotonia |
OMIM:618829 |
Joubert Syndrome 2 |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ata... |
OMIM:608091 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Pericardial effusion, Abnormal tricuspid valve leaflet morphology, Anomalou... |
ORPHA:555874 |
Leigh Syndrome |
|
Chorea, Spasticity, Spastic diplegia, Abnormal brainstem MRI signal intensity, Choreoathetosis, A... |
ORPHA:506 |
Cowden Syndrome 1 |
|
High palate, Micrognathia, Hypoplasia of the maxilla, Cataract, Narrow mouth, Furrowed tongue |
OMIM:158350 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Spasticity, Hypoplasia of the pons, Dystonia, Axial hypotonia |
ORPHA:500144 |
Choreoacanthocytosis |
|
Hair-pulling, Blepharospasm, Limb dystonia, Self-mutilation of tongue and lips due to involuntary... |
ORPHA:2388 |
Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Cognitive impairment, Suicidal ideation, Anxiety |
ORPHA:98784 |
Alternating Hemiplegia Of Childhood |
|
Chorea, Aggressive behavior, Rigidity, Choreoathetosis, Emotional lability, Ataxia, Hypotonia, Tr... |
ORPHA:2131 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Dystonia, Hypotonia, Spastic ataxia, Generalized hypotonia |
OMIM:277410 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:614120 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Spasticity, Hypotonia, Dystonia |
OMIM:614702 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Hypoplasia of the thymus, Dysdiadochokinesis, Inability to walk, Choreoathet... |
OMIM:208900 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Long philtrum, Hypoplasia of the maxilla, Smooth philtrum, Thin vermilion border |
ORPHA:481152 |
Kufor-Rakeb Syndrome |
|
Blepharospasm, Lingual dystonia, Rigidity, Oculogyric crisis, Apathy, Gait disturbance, Dementia,... |
ORPHA:306674 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Hypotonia, Dystonia, Periventricular heterotopia |
OMIM:614105 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Dental malocclusion, High palate, Wide nasal bridge, Micrognathia, Hypoplasi... |
OMIM:615546 |
Apert Syndrome |
|
Mandibular prognathia, Narrow palate, Corneal erosion, Delayed eruption of teeth, Bifid uvula, Hy... |
ORPHA:87 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hypothyroidism, Generalized hypotonia, Dystonia |
OMIM:607906 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Spasticity, Self-injurious behavior, Inability to walk, Limb hypertonia, Limb dystonia, Neonatal ... |
ORPHA:457351 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Micropenis, Hepatosplenomegaly |
ORPHA:168569 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... |
ORPHA:449395 |
3Mc Syndrome 2 |
|
Cleft upper lip, High palate, Wide nasal bridge, Prominence of the premaxilla, Downturned corners... |
OMIM:265050 |
Stickler Syndrome |
|
Cleft upper lip, Long philtrum, Micrognathia, Advanced eruption of teeth, Macroglossia, Short nos... |
ORPHA:828 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Micrognathia, Hypoplasia of the maxilla, Aplastic zygomatic arch, Cleft palate |
OMIM:616462 |
Niemann-Pick Disease, Type C2 |
|
Spasticity, Dementia, Ataxia, Hypotonia, Dystonia |
OMIM:607625 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:619111 |
Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hypospadias, Hyperechogenic kidneys, Microphallus |
OMIM:612651 |
Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Abnormal midbrain morphology, Self-mutilation, Lower limb spa... |
ORPHA:314621 |
Cerebrotendinous Xanthomatosis |
|
Somatic sensory dysfunction, Hypothyroidism, Aggressive behavior, Cognitive impairment, Spasticit... |
ORPHA:909 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Spasticity, Blepharospasm, Akinesia, Rigidity, Choreoathetosis, Gait disturbance, Dementia, Ataxi... |
OMIM:234200 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Spastic paraplegia |
OMIM:619026 |
Barber-Say Syndrome |
|
Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Delayed eruption of teeth, W... |
OMIM:209885 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dysdiadochokinesis, Truncal ataxia, Rigidity, Gait disturbance, Spastic paraparesis, Action tremo... |
ORPHA:309854 |
Idiopathic Camptocormia |
|
Frontotemporal dementia, Amyotrophic lateral sclerosis, Dystonia, Abnormal pons morphology |
ORPHA:1320 |
Kagami-Ogata Syndrome |
|
Retrognathia, Micrognathia, Hypoplasia of the maxilla, Long philtrum |
OMIM:608149 |
Galloway-Mowat Syndrome 1 |
|
Spasticity, Hypoplasia of the brainstem, Spastic tetraplegia, Ataxia, Hypotonia, Pachygyria, Axia... |
OMIM:251300 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Spasticity, Gait imbalance, Spastic diplegia, Generalized hypotonia, Gait disturbance, Ataxia, Tr... |
OMIM:300966 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Maturity-onset diabetes of the young, Tremor, Hypertonia, Axial hypotonia, Irr... |
ORPHA:1578 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Dystonia, Gait disturbance |
OMIM:617903 |
Gabriele-De Vries Syndrome |
|
Tip-toe gait, Tremor, Hypotonia, Facial hypotonia, Anxiety, Dystonia, Waddling gait |
OMIM:617557 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Abnormal right ventricle morphology, ... |
ORPHA:500095 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Chorea, Inability to walk, Ataxia, Hypotonia, Dystonia |
OMIM:617804 |
Joubert Syndrome 37 |
|
Generalized hypotonia, Molar tooth sign on MRI |
OMIM:619185 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Hepatomegaly, Cardiomegaly, ... |
OMIM:252500 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dental malocclusion, Mandibular prognathia, Delayed eruption of teeth, Hypodontia, Hypoplasia of ... |
OMIM:101800 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Spasticity, Simplified gyral pattern, Type I diabetes mellitus, Pachygyria, Dystonia |
OMIM:618397 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Conical tooth, Everted upper lip vermilion, Microdontia, Hypodontia, Taurodontia, Short nose, Eve... |
OMIM:305100 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Meier-Gorlin Syndrome 5 |
|
Long philtrum, Micrognathia, Submucous cleft hard palate, Hypoplasia of the maxilla, Thick vermil... |
OMIM:613805 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the frontal bone, Wide nasal bridge, Hypoplasia of the maxilla, Cataract, Cleft pal... |
ORPHA:306542 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI |
OMIM:614815 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hypotonia, Dystonia, Ataxia |
OMIM:619167 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Spasticity, Dystonia |
OMIM:618186 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Hypertrophic cardi... |
ORPHA:116 |
Early Infantile Epileptic Encephalopathy |
|
Spasticity, Precocious puberty, Self-injurious behavior, Choreoathetosis, Episodic ataxia, Tremor... |
ORPHA:1934 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Spastic tetraparesis, Dystonia |
ORPHA:404451 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine, Cataract, Short nose |
ORPHA:79345 |
Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Hypoplasia of the premaxilla, Short ph... |
OMIM:610829 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Wide nasal bridge, Micrognathia, Hypoplasia of the maxilla, Narrow mouth |
ORPHA:314679 |
Wieacker-Wolff Syndrome |
|
Spasticity, Hypotonia, Dystonia, Generalized hypotonia |
OMIM:314580 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... |
ORPHA:731 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Chorea, Self-biting, Choreoathetosis, Ataxia, Dystonia, Self-mutilation, Infantile muscular hypot... |
ORPHA:522077 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Spastic tetraplegia, Head titubation, Axial hypotonia, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypotonia, Dystonia, Difficulty walking, Falls |
OMIM:618222 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Bifid uvula, Submucous cleft hard palate, Short philtrum, Hypoplasia of th... |
ORPHA:1299 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Micrognathia, Peripheral opacification of the cornea, Hypoplasia of th... |
OMIM:259600 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... |
ORPHA:1031 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hepatomegaly, Proteinuria, Nephrocalcinosis, Tub... |
ORPHA:79259 |
Ogden Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Enlarg... |
OMIM:300855 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Axial hypotonia, Generalized hypotonia, Dystonia, Limb hypertonia |
OMIM:616875 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Aggressive behavior, Inability to walk, Limb hypertonia, Limb dystonia, Hypotonia, Dystonia, Anxi... |
OMIM:616973 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Spasticity, Dystonia |
OMIM:617762 |
Geroderma Osteodysplasticum |
|
Hypoplasia of the maxilla, Malar flattening, Mandibular prognathia, Periodontitis |
OMIM:231070 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Increased circulating prolactin concentration, Aggressive behavior, Gonad... |
ORPHA:293987 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypotonia, Choreoathetosis, Dystonia, Ataxia |
OMIM:615471 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Spastic tetraplegia, Limb dystonia, Hypotonia, Hypertonia, Opisthotonus |
OMIM:619847 |
Triosephosphate Isomerase Deficiency |
|
Spasticity, Generalized hypotonia, Hypotonia, Tremor, Unsteady gait, Dystonia |
OMIM:615512 |
Van Den Ende-Gupta Syndrome |
|
High palate, Micrognathia, Dental crowding, Everted lower lip vermilion, Hypoplasia of the maxill... |
OMIM:600920 |
Joubert Syndrome 38 |
|
Decreased response to growth hormone stimulation test, Molar tooth sign on MRI, Small pituitary g... |
OMIM:619476 |
Alobar Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Spasticity, Decreased response to growth hormone stim... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Spasticity, Decreased response to growth hormone stim... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Spasticity, Decreased response to growth hormone stim... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Spasticity, Decreased response to growth hormone stim... |
ORPHA:220386 |
Propionic Acidemia |
|
Axial hypotonia, Dystonia, Limb hypertonia |
OMIM:606054 |
Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI |
OMIM:614175 |
Pyruvate Carboxylase Deficiency |
|
Tip-toe gait, Apathy, Generalized hypotonia, Ataxia, Hypotonia, Tremor, Dystonia |
ORPHA:3008 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Generalized dystonia, Mental deterioration |
ORPHA:79107 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Ataxia, Loss of ambulation, Pain insensitivity, Hypotonia, Painless frac... |
OMIM:256810 |
Dyskeratosis Congenita |
|
Periodontitis, Hypodontia, Taurodontia, Hypoplasia of the maxilla, Cataract, Oral leukoplakia, Ca... |
ORPHA:1775 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Spasticity, Progressive spasticity, Ataxia, Dystonia, Infantile muscular hypotonia |
ORPHA:496641 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Micrognathia, Mandibular condyle hypoplasia, Hypoplasia of the premaxilla |
ORPHA:2975 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:3044 |
Arima Syndrome |
|
Gray matter heterotopia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Generalized hypoto... |
OMIM:243910 |
Wilson Disease |
|
Face of the giant panda sign, Limb dystonia, Rigidity, Hand tremor, Dementia, Hypoesthesia, Tremo... |
OMIM:277900 |
Monosomy 18P |
|
Hypothyroidism, Generalized dystonia, Hypotonia |
ORPHA:1598 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Aggressive behavior, Choreoathetosis, Hypertonia, Unsteady gait, Dyston... |
ORPHA:17 |
Marshall-Smith Syndrome |
|
Retrognathia, Irregular dentition, High palate, Microdontia, Gingival overgrowth, Short philtrum,... |
OMIM:602535 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Limb hypertonia, Abnormal cortical gyration, Rigidity, Progressive ... |
ORPHA:521426 |
Aicardi-Goutières Syndrome |
|
Hypothyroidism, Spasticity, Spastic tetraplegia, Spastic paraparesis, Diabetes mellitus, Tremor, ... |
ORPHA:51 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Dental malocclusion, High palate, Aplasia of the nose, Cataract, Clef... |
OMIM:603457 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Spasticity, Ataxia, Tremor, Mental deterioration, Dystonia |
OMIM:612199 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Suicidal ideation, Violent behavior, Hypertonia, Isometric tremor, Spasticity, Aggressive behavio... |
OMIM:619475 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism, Dystonia, Ataxia, Hypertonia |
ORPHA:480864 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Patent ductus arteriosus, Gray matter heterotopia, Spastic tetraplegia, Frontal polymicrogyria, H... |
OMIM:620024 |
Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Mitral valve prolapse, At... |
OMIM:615873 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Nmda Receptor Encephalitis |
|
Chorea, Neoplasm of the thymus, Rigidity, Oculogyric crisis, Choreoathetosis, Dystonia, Anxiety, ... |
ORPHA:217253 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Cleft upper lip, High palate, Wide nasal bridge, Micrognathia, Recurrent sinusitis, Short nose, H... |
OMIM:213980 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Choreoathetosis, Diabetes mellitu... |
OMIM:241080 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dystonia, Self-mutilation |
ORPHA:79233 |
Leprechaunism |
|
Enlarged kidney, Long penis, Hypertrophic cardiomyopathy, Hepatomegaly, Enlarged ovaries, Nephroc... |
ORPHA:508 |
Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Prolonged G2 phase of cell cycle |
OMIM:227650 |
Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Frontotemporal dementia, Rigidity, Focal dystonia, Tremor, Dystonia |
ORPHA:199351 |
Ear-Patella-Short Stature Syndrome |
|
Retrognathia, Mandibular aplasia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Hypopla... |
ORPHA:2554 |
Bartsocas-Papas Syndrome 1 |
|
Cleft upper lip, Micrognathia, Oral synechia, Pterygium, Axillary pterygium, Short nose, Hypoplas... |
OMIM:263650 |
Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
ORPHA:1252 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Dystonia |
ORPHA:261197 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Limb hypertonia, Abnormal midbrain morphology |
ORPHA:444072 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Dystonia, Neonatal hypotonia |
ORPHA:457193 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dental malocclusion, High palate, Narrow palate, Micrognathia, Hypoplasia of the maxilla |
OMIM:182212 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Wide mouth, Microdontia, Hypoplasia of the maxilla, Corneal opacity, Hypoplasia ... |
ORPHA:920 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Gait ataxia, Chorea, Spasticity, Ataxia, Hypertonia, Dystonia, Infantile muscular hypotonia |
ORPHA:255210 |
Distal Monosomy 19P13.3 |
|
Hypoplasia of the maxilla, Cleft palate, Short philtrum |
ORPHA:96129 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Filippi Syndrome |
|
Limb dystonia, Spasticity, Hypotonia |
ORPHA:3255 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Spasticity, Precocious puberty, Tip-toe gait, Spastic diplegia, Spastic tetraplegia, Limb hyperto... |
OMIM:619950 |
Neurofaciodigitorenal Syndrome |
|
Abnormality of the philtrum, Mandibular prognathia, Hypoplasia of the premaxilla, Abnormal oral m... |
ORPHA:2673 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Limb dystonia, Hypotonia |
OMIM:604377 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Hypotonia, Neonatal hypotonia, Axial hypotonia, Dystonia |
OMIM:614924 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Thick vermilion border |
OMIM:613803 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Narrow palate, Open bite |
ORPHA:794 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Nephroblastoma, Cardiomyopathy, Ventricular septal defect, Transposition of the great arteries, E... |
OMIM:312870 |
Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Limb hypertonia, Generalized hypotonia, Spastic tetraparesis, Hypotonia, Hyperton... |
OMIM:615846 |
Fucosidosis |
|
Dystonia, Spastic tetraplegia, Spastic gait |
OMIM:230000 |
Lipoid Proteinosis |
|
Dystonia |
ORPHA:530 |
Rubinstein-Taybi Syndrome 1 |
|
Retrognathia, Enamel hypoplasia, Dental malocclusion, Talon cusp, High palate, Narrow palate, Wid... |
OMIM:180849 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hypotonia, Inability to walk, Dystonia, Ataxia |
OMIM:620083 |
Zttk Syndrome |
|
High palate, Wide nasal bridge, Bifid uvula, Submucous cleft hard palate, Short philtrum, Short n... |
OMIM:617140 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Spasticity, Dystonia, Decerebrate rigidity, Infantile muscular hypo... |
ORPHA:79255 |
Holoprosencephaly |
|
Chorea, Diabetes insipidus, Spasticity, Cognitive impairment, Abnormality of neuronal migration, ... |
ORPHA:2162 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Spasticity, Generalized hypotonia, Dystonia |
OMIM:616811 |
Myhre Syndrome |
|
Mandibular prognathia, Short philtrum, Hypoplasia of the maxilla, Thin upper lip vermilion, Catar... |
OMIM:139210 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Spastic tetraplegia |
OMIM:619306 |
Microphthalmia With Limb Anomalies |
|
Cleft upper lip, High palate, Long philtrum, Hypoplasia of the premaxilla, Micrognathia, Hypoplas... |
ORPHA:1106 |
Shprintzen-Goldberg Syndrome |
|
Retrognathia, Micrognathia, High, narrow palate, Hypoplasia of the maxilla |
ORPHA:2462 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Generalized hypotonia, Periventricular nodular heterotopia, Hypotonia, P... |
OMIM:277170 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Inability to walk, Lingual dystonia, Facial hypotonia, Action tremor, Athetosis, Dystonia |
ORPHA:404454 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the midbrain, Hypoplasia of the pons, Aggressive behavior |
OMIM:616202 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Generalized hypotonia, Hand tremor, Hypertonia, Dystonia |
OMIM:618947 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Prolonged G2 phase of cell cycle |
OMIM:227646 |
Mercury Poisoning |
|
Tremor, Dystonia |
ORPHA:330021 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Generalized hypotonia, Molar tooth sign on MRI, Polymicrogyria |
OMIM:616546 |
Aicardi Syndrome |
|
Cleft palate, Cleft upper lip, Prominence of the premaxilla, Cataract |
OMIM:304050 |
Developmental And Epileptic Encephalopathy 89 |
|
Axial hypotonia, Spasticity, Dystonia, Hypertonia |
OMIM:619124 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Cleft upper lip, Selective tooth agenesis, Microdontia, Absence of Stensen duct, Oligodontia, Hyp... |
OMIM:129900 |
Meier-Gorlin Syndrome 1 |
|
High palate, Micrognathia, Microdontia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate, Th... |
OMIM:224690 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Bilateral cleft lip, Wide nasal bridge, Median cleft lip and palate... |
OMIM:610828 |
Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI |
OMIM:611134 |
Hermansky-Pudlak Syndrome 10 |
|
Generalized hypotonia, Dystonia, Axial hypotonia |
OMIM:617050 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Cleft upper lip, Selective tooth agenesis, Microdontia, Absence of Stensen duct, Hypoplasia of th... |
OMIM:604292 |
Slc39A8-Cdg |
|
Dystonia, Inability to walk, Severe muscular hypotonia |
ORPHA:468699 |
Mogs-Cdg |
|
Hypothyroidism, Dystonia, Inappropriate antidiuretic hormone secretion, Infantile muscular hypotonia |
ORPHA:79330 |
Von Hippel-Lindau Disease |
|
Anxiety, Pancreatic endocrine tumor, Elevated circulating catecholamine level, Pancreatic islet c... |
ORPHA:892 |
Joubert Syndrome 39 |
|
Pain insensitivity, Molar tooth sign on MRI |
OMIM:619562 |
Saethre-Chotzen Syndrome |
|
Narrow palate, Long nose, Hypoplasia of the maxilla, Buphthalmos, Cleft of chin, Cleft palate, Ma... |
OMIM:101400 |
Craniosynostosis And Dental Anomalies |
|
Dental malocclusion, Mandibular prognathia, Narrow palate, High palate, Delayed eruption of teeth... |
OMIM:614188 |
Chromosome 18P Deletion Syndrome |
|
Hypotonia, Dystonia |
OMIM:146390 |
Gabriele-De Vries Syndrome |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Hypotonia, Tremor, Facial ... |
ORPHA:506358 |
Greenberg Dysplasia |
|
Retrognathia, Micrognathia, Hypoplasia of the maxilla, Stillbirth, Neonatal death |
OMIM:215140 |
Beta-Ureidopropionase Deficiency |
|
Hypotonia, Dystonia, Neonatal hypotonia |
OMIM:613161 |
Floating-Harbor Syndrome |
|
Wide mouth, Microdontia, Oligodontia, Short philtrum, Hypoplasia of the maxilla, Persistence of p... |
ORPHA:2044 |
Aicardi Syndrome |
|
Short philtrum, Cleft palate, Cleft upper lip, Prominence of the premaxilla |
ORPHA:50 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Generalized hypotonia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
ORPHA:397715 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Irritability, Dystonia, Axial hypotonia |
OMIM:618278 |
Peters-Plus Syndrome |
|
Cleft upper lip, Long philtrum, Widely spaced teeth, Short lingual frenulum, Micrognathia, Agenes... |
OMIM:261540 |
Neuroleptic Malignant Syndrome |
|
Chorea, Oculogyric crisis, Tremor, Anxiety, Extrapyramidal muscular rigidity |
ORPHA:94093 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Retrognathia, Mandibular prognathia, Long philtrum, Deep philtrum, Wide nasal bridge, Micrognathi... |
ORPHA:96334 |
Arboleda-Tham Syndrome |
|
Patent ductus arteriosus, Gait imbalance, Generalized hypotonia, Hypotonia, Neonatal hypotonia, A... |
OMIM:616268 |
3-Methylglutaconic Aciduria, Type Viii |
|
Patent ductus arteriosus, Generalized hypotonia, Tremor, Hypotonia, Hypertonia, Dystonia |
OMIM:617248 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus, Molar tooth sign on MRI |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Small pituitary gland, Hypotonia, Molar tooth sign on MRI |
OMIM:619479 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
High palate, Micrognathia, Prominence of the premaxilla |
OMIM:614437 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Spasticity, Truncal ataxia, Simplified gyral pattern, Ataxia, Dysmetria, Hypotonia, Tremor, Dystonia |
OMIM:220111 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent ductus arteriosus, Abnormality of the anterior pituitary, Increased circulating prolactin ... |
ORPHA:438213 |
Orofaciodigital Syndrome Type 1 |
|
Tremor, Dystonia, Ataxia |
ORPHA:2750 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Wide nasal bridge, Bifid uvula, Short philtrum, Short nose, Hypoplasia of the maxilla, Submucous ... |
ORPHA:500150 |
Singleton-Merten Syndrome 1 |
|
Eruption failure, Hypoplasia of the maxilla, Thin upper lip vermilion, Carious teeth, Smooth phil... |
OMIM:182250 |
Meckel Syndrome, Type 1 |
|
Patent ductus arteriosus, Molar tooth sign on MRI, Hypotonia, Axial hypotonia, Adrenal hypoplasia |
OMIM:249000 |
Primrose Syndrome |
|
High palate, Wide nasal bridge, Thick lower lip vermilion, Increased size of the mandible, Poster... |
OMIM:259050 |
Legius Syndrome |
|
Dystonia, Hypotonia, Cognitive impairment |
ORPHA:137605 |
Orofaciodigital Syndrome Xiv |
|
Patent ductus arteriosus, Molar tooth sign on MRI, Periventricular heterotopia, Simplified gyral ... |
OMIM:615948 |
Holoprosencephaly 2 |
|
Bifid uvula, Submucous cleft hard palate, Median cleft lip and palate, Solitary median maxillary ... |
OMIM:157170 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Hypotonia, Molar tooth sign on MRI, Periventricular heterotopia |
ORPHA:434179 |
Craniofacial Microsomia |
|
Transverse facial cleft, Cleft upper lip, Wide mouth, Micrognathia, Limbal dermoid, Hypoplasia of... |
OMIM:164210 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Dystonia |
ORPHA:90349 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon |
OMIM:601374 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Limb dystonia, Spasticity, Dystonia |
OMIM:175780 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |