| Spinocerebellar Ataxia 43 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... |
OMIM:617018 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor |
ORPHA:217012 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Cerebellar hypoplasia, Tremor, Ataxia |
OMIM:213000 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... |
OMIM:616053 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... |
ORPHA:98769 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... |
ORPHA:94122 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... |
ORPHA:363710 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Spasticity, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... |
ORPHA:284332 |
| Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... |
ORPHA:101010 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait |
OMIM:616410 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy |
OMIM:605388 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Spastic paraplegia, Inability to walk, Periventricular nodular heterotopia, Cerebellar hypoplasia... |
OMIM:618572 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... |
OMIM:615768 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... |
OMIM:616291 |
| Lissencephaly, X-Linked, 1 |
|
Spasticity, Postnatal growth retardation, Ataxia, Pachygyria, Agyria, Gray matter heterotopia, Li... |
OMIM:300067 |
| Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... |
OMIM:613908 |
| Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Periventricular laminar heterotopia, Ataxia, Pachyg... |
OMIM:611603 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar atrophy, Inability... |
OMIM:615268 |
| Lissencephaly 1 |
|
Pachygyria, Cerebellar hypoplasia, Gray matter heterotopia, Spastic tetraparesis, Agyria, Subcort... |
OMIM:607432 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired dista... |
OMIM:619742 |
| Spinocerebellar Ataxia 38 |
|
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia |
OMIM:615957 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia |
OMIM:141500 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Pachygyria, Gait ata... |
OMIM:224050 |
| Spinocerebellar Ataxia 45 |
|
Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:617769 |
| Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... |
ORPHA:276193 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... |
ORPHA:98762 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Unsteady gait, Tr... |
ORPHA:314978 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... |
OMIM:610245 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis |
OMIM:607458 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... |
OMIM:616948 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... |
ORPHA:101110 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:617133 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... |
ORPHA:3002 |
| Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia |
OMIM:611694 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Short stature, Intent... |
OMIM:608029 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Cerebellar atrophy, Ataxia |
OMIM:619333 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... |
OMIM:213200 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Spastic tetraplegia, Intrauterine growth retardation, Pachygyria, Agyria, Gray matter heterotopia... |
OMIM:615411 |
| Microlissencephaly |
|
Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Hypertonia, Pachygyria, Subcorti... |
ORPHA:1083 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Ab... |
OMIM:607317 |
| Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia |
OMIM:117210 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... |
OMIM:302500 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Inability to walk, Periventricular heterotopia, Cerebellar hypoplas... |
OMIM:618273 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait... |
OMIM:610185 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intrauterine growth retardation, Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia |
OMIM:620270 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Trem... |
ORPHA:98763 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ... |
ORPHA:423275 |
| Periventricular Nodular Heterotopia 8 |
|
Cerebellar vermis atrophy, Periventricular nodular heterotopia, Spasticity |
OMIM:618185 |
| Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado... |
OMIM:604326 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor |
OMIM:618876 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... |
OMIM:617610 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction |
|
Spasticity, Cerebellar atrophy, Spastic tetraparesis, Gait disturbance, Short stature, Dystonia |
OMIM:620515 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... |
OMIM:614831 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab... |
OMIM:611302 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Hypertonia, Periventricular ribbonlike heterotopia... |
OMIM:618677 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... |
OMIM:618093 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Dystonia 23 |
|
Cerebellar atrophy, Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Tort... |
OMIM:614860 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus, Ataxia |
OMIM:618709 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia |
OMIM:618387 |
| Symmetrical Thalamic Calcifications |
|
Spasticity, Failure to thrive, Abnormality of neuronal migration, Hypertonia, Ataxia |
ORPHA:1314 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... |
OMIM:614322 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... |
OMIM:616127 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... |
OMIM:618090 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Choreoathetosis |
OMIM:125370 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia |
OMIM:617584 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... |
ORPHA:251282 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... |
ORPHA:284324 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... |
OMIM:613728 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo... |
OMIM:617145 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado... |
OMIM:615386 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Falls, Resting tremor, Cerebellar atrophy, Gait... |
OMIM:617225 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function,... |
OMIM:615362 |
| Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... |
OMIM:604432 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Cerebellar atrophy, Gait ataxia, Dystonia, Cerebellar hypoplasia, Ataxia, Trunc... |
OMIM:601238 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Truncal at... |
OMIM:616230 |
| Spinocerebellar Ataxia Type 2 |
|
Abnormal cortical gyration, Fasciculations, Chorea, Postural tremor, Gait ataxia, Dystonia, Parki... |
ORPHA:98756 |
| Tremor, Hereditary Essential, 6 |
|
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Spastic Paraplegia, Ataxia, And Impaired Intellectual Development |
|
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... |
OMIM:607565 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Gait ataxia,... |
ORPHA:512260 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia, Failure to thrive, Tetraparesis |
OMIM:608097 |
| Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Short stature, Truncal ataxia |
OMIM:276880 |
| Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par... |
OMIM:213600 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At... |
OMIM:619028 |
| Ataxia, Sensory, 1, Autosomal Dominant |
|
Dysesthesia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Babinski sign, G... |
OMIM:608984 |
| X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Progressive gait ataxia, Bab... |
ORPHA:1175 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia |
OMIM:617916 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia... |
ORPHA:397946 |
| Chudley-Mccullough Syndrome |
|
Polymicrogyria, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Gray matter heterotopia |
OMIM:604213 |
| Dystonia 22, Juvenile-Onset |
|
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... |
OMIM:620453 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... |
OMIM:616795 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations |
OMIM:615048 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia |
OMIM:615705 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... |
ORPHA:98764 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinso... |
ORPHA:521406 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Chiari type I malformation, Ataxia, Short stature, Dystonia |
OMIM:617836 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston... |
ORPHA:71517 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... |
OMIM:610357 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dy... |
OMIM:256731 |
| Spinocerebellar Ataxia 29 |
|
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... |
OMIM:117360 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... |
ORPHA:1170 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Babinski sign, Clumsiness, Oculom... |
ORPHA:453521 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... |
OMIM:128230 |
| Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,... |
OMIM:620158 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Small for gestational age, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb dystonia, Ba... |
OMIM:619054 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Spasticity, Abnormal cerebellum morphology, Tremor, Hyperkinetic mo... |
OMIM:300957 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Gait ataxia, Limb at... |
OMIM:616719 |
| Juvenile Huntington Disease |
|
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait ataxia, Myoclonus, ... |
ORPHA:248111 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Cerebellar atrophy, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impa... |
OMIM:300423 |
| Mast Syndrome |
|
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Incoordination, Babinski sign, Aprax... |
OMIM:248900 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... |
OMIM:164500 |
| Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Trun... |
OMIM:607346 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia, Growth delay, Small for gestational age |
OMIM:278780 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... |
OMIM:604765 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
| Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Gait ataxia, Dysmetria, Focal dystonia, Impaired vibration sensation at ankle... |
OMIM:605361 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Cerebellar atrophy, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski si... |
OMIM:618088 |
| Joubert Syndrome 24 |
|
Spasticity, Polymicrogyria, Dysmetria, Cerebellar hypoplasia, Gait disturbance, Ataxia, Pachygyria |
OMIM:616654 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Cerebellar hyp... |
OMIM:617810 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Cerebellar atrophy, Failure to thrive, Tetraparesis, Ataxia, Dystonia, Athetosis, Growth delay |
OMIM:619310 |
| Behr Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance... |
OMIM:210000 |
| X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... |
ORPHA:93952 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hyperton... |
OMIM:619738 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... |
OMIM:615382 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Spinocerebellar Ataxia 5 |
|
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... |
OMIM:600224 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Pachygyria, Spasticity, Agyria, Gray matter heterotopia |
ORPHA:1084 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... |
ORPHA:139485 |
| Hyperprolinemia, Type I |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... |
OMIM:239500 |
| Spinocerebellar Ataxia 27B, Late-Onset |
|
Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:620174 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... |
OMIM:617633 |
| Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria |
OMIM:617770 |
| Peroxisome Biogenesis Disorder 8B |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Tip-toe gait, Failure to thrive, Cerebellar ... |
OMIM:614877 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait |
ORPHA:284271 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Failure to thrive, Polymicrogyria, Hemiparesis, Abnormality of neuronal migration, Hypertonia, Pa... |
OMIM:604317 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Diffi... |
ORPHA:98 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Spinocerebellar Ataxia Type 29 |
|
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... |
ORPHA:208513 |
| Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... |
OMIM:619806 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... |
ORPHA:216873 |
| Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Broad-based gait, Dilated fourth ventricle, Gait ataxia, Cerebellar hypoplasia, Head titubation, ... |
OMIM:620208 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Spasticity, Cerebellar atrophy, Intention tremor, Dysmetria, Progressive gait ataxia, Truncal ata... |
ORPHA:352403 |
| Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Hypertonia, Ataxia, Abnormal cerebellar verm... |
ORPHA:33445 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Hand tremor, Impaired vibra... |
OMIM:614409 |
| Spinocerebellar Ataxia Type 17 |
|
Blepharospasm, Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Parkinson... |
ORPHA:98759 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Short stature, Intrauterine growth retardation, Abnormality of neuronal migration, Hypertonia |
ORPHA:2216 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Developmental And Epileptic Encephalopathy 37 |
|
Spasticity, Cerebellar atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic move... |
OMIM:616981 |
| Potocki-Lupski Syndrome |
|
Hearing impairment, Oral-pharyngeal dysphagia, Hypocholesterolemia, Patent foramen ovale, Abnorma... |
OMIM:610883 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy... |
OMIM:607136 |
| Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Gait ataxia, ... |
ORPHA:251347 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... |
OMIM:616204 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Difficulty walking, Impaired vibration sensation in the lower limbs, Abnormal... |
ORPHA:137898 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Spasticity, Polymicrogyria |
ORPHA:101029 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... |
OMIM:617284 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Splenomegaly, Intention tremor |
OMIM:610539 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Cerebellar atrophy, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myocl... |
ORPHA:79263 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Short stature, Dyst... |
OMIM:612438 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dystonia, Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Tremor, Ataxia |
OMIM:618951 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Ga... |
OMIM:619862 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Dis... |
OMIM:302800 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... |
OMIM:609270 |
| Spastic Paraparesis And Deafness |
|
Short stature, Spastic paraparesis, Tremor |
OMIM:312910 |
| Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Babinski sign, Truncal ataxia, Progress... |
ORPHA:101112 |
| Spinocerebellar Ataxia Type 21 |
|
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal... |
ORPHA:98773 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist... |
ORPHA:276435 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity, EEG abnormality |
ORPHA:436151 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Cerebellar atrophy, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski ... |
OMIM:607694 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Delayed menarche, T... |
ORPHA:330050 |
| Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:454887 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... |
ORPHA:464440 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia |
OMIM:612016 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Spasticity, Cerebellar atrophy, Inability to walk, Chorea, Rigidity, Abnormality of extrapyramida... |
OMIM:617672 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia |
OMIM:615924 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... |
OMIM:183090 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Cerebellar atrophy, Resting tremor, Incoordination, Limb ataxia, Gait ataxia... |
OMIM:615157 |
| Spinocerebellar Ataxia 28 |
|
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski s... |
OMIM:610246 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia |
ORPHA:599373 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... |
OMIM:208920 |
| 4H Leukodystrophy |
|
Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive ... |
ORPHA:289494 |
| Congenital Disorder Of Glycosylation, Type Iibb |
|
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Tetraparesis, An... |
OMIM:620546 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Impaired pain sensation, Tremor, Ataxia |
ORPHA:101075 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... |
OMIM:619902 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... |
ORPHA:100973 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... |
OMIM:600363 |
| Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait |
OMIM:614867 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia |
OMIM:614018 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, Head titubat... |
OMIM:617560 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Gray matter heterotopia, Pachygyria, Cerebe... |
ORPHA:370980 |
| Spinocerebellar Ataxia 44 |
|
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis |
OMIM:617691 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Tremor, Hydrocephalus, Spastic tetraparesis, Simplified gyral pattern |
OMIM:619470 |
| Glutathionuria |
|
Gray matter heterotopia, Action tremor, Dysdiadochokinesis, Tremor |
OMIM:231950 |
| Lissencephaly 5 |
|
Spastic paraplegia, Cerebellar vermis hypoplasia, Occipital encephalocele, Type II lissencephaly,... |
OMIM:615191 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Cataract-Ataxia-Deafness Syndrome |
|
Short stature, Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere... |
OMIM:608768 |
| Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
| Gerstmann-Straussler Disease |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsoni... |
OMIM:137440 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... |
ORPHA:101077 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Impaired pain sensation, Tremor, Ataxia |
ORPHA:101078 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia |
OMIM:614229 |
| Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... |
OMIM:600223 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Cerebellar dentate nucleus calcification, Tremor, Abnormal pyramidal sign, Gait distu... |
ORPHA:542310 |
| Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Trunca... |
OMIM:183086 |
| Spinocerebellar Ataxia Type 36 |
|
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem... |
ORPHA:276198 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spasticity, Oculomotor a... |
OMIM:604391 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cerebellar hy... |
ORPHA:529665 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Dysgyria, Cerebellar hypoplasia, Hydrocephalus, G... |
ORPHA:352682 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Hsd10 Disease |
|
Spastic paraparesis, Postnatal growth retardation, Myoclonus, Tremor, Rigidity, Gait disturbance,... |
ORPHA:391417 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hypsarrhythmia, Hyperactivity, Agitation |
OMIM:619970 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor, Ankle clonus, Dy... |
OMIM:617435 |
| Spinocerebellar Ataxia 34 |
|
Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnor... |
OMIM:133190 |
| Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... |
ORPHA:98772 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Hypotension, Abnorma... |
ORPHA:85445 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... |
ORPHA:391411 |
| Nephronophthisis 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... |
OMIM:604387 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... |
ORPHA:52368 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Loss of ambula... |
OMIM:611390 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Polymicrogyria, Hemiparesis, Pachygyria, Gray matter ... |
ORPHA:300573 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Failure to thrive, Inability to walk, Tremor, Cerebellar hypoplasia, Hypertonia, Ataxia |
OMIM:619556 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Tetraparesis, Fasciculation... |
OMIM:615491 |
| Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation |
ORPHA:98771 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Gait ataxia, Myoclonus, Dysmetria, Distal sensory impairment, Tremor, Babinsk... |
OMIM:616505 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... |
OMIM:600116 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... |
OMIM:301008 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr... |
OMIM:614381 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph... |
ORPHA:340 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... |
OMIM:618049 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Oculomotor apraxia, Abnor... |
OMIM:618060 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... |
OMIM:617519 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... |
ORPHA:314632 |
| Pelizaeus-Merzbacher Disease |
|
Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Inability to walk,... |
OMIM:312080 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Hypoplasia of the pons, Intrauterine growth retardation, Periventricular hete... |
OMIM:616171 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom... |
OMIM:614487 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia |
OMIM:618587 |
| Fragile X Tremor/Ataxia Syndrome |
|
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A... |
OMIM:300623 |
| Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Tremor |
OMIM:619561 |
| Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia |
ORPHA:210128 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Myoclonus, Failure to thrive, Tremor |
OMIM:619651 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Gait ataxia, Decreased body weight, Babinski sign, Short stature, Sensory ataxia |
ORPHA:445062 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Chiari malformation, Myelomeningocele, Opisthotonus, Hydrocephalus, Spina bi... |
OMIM:207950 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l... |
OMIM:618598 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... |
ORPHA:306692 |
| Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis |
OMIM:261630 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
| Spinocerebellar Ataxia 13 |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb dysmetria, Myoclonus, Abnormal pyr... |
OMIM:605259 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Hepatosplenomegaly, Splenomegaly, Ecchymos... |
ORPHA:464329 |
| Mepan Syndrome |
|
Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Chorea, Myoclonus, Limb dystonia... |
ORPHA:508093 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:240103 |
| Poretti-Boltshauser Syndrome |
|
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Oculomotor apraxia,... |
OMIM:615960 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Writer's cramp, Tremor, Torticollis |
OMIM:159900 |
| Boucher-Neuhauser Syndrome |
|
Spasticity, Cerebellar atrophy, Gait ataxia, Ataxia, Spinocerebellar atrophy, Intention tremor |
OMIM:215470 |
| Peroxisome Biogenesis Disorder 3B |
|
Abnormal bleeding, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Sensori... |
OMIM:266510 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Failure to thrive, Pachygyria, Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dyst... |
ORPHA:280210 |
| Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Gait imbalance, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Kine... |
ORPHA:98761 |
| Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnor... |
OMIM:607454 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Cerebellar atrophy, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dysto... |
OMIM:617013 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Distal sensory impairment, Tremor, Babinski sign, Steppage gait, Hypertonia |
OMIM:609260 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Abnormality of neuronal migration, Babinski sign, Cerebellar hypoplasia, Short stature |
OMIM:608840 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... |
ORPHA:370022 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Polymicrogyria, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rig... |
OMIM:618877 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Intrauterine growth retardation, Periventricular heterotopia, Decreased body weight, Cerebellar h... |
ORPHA:255138 |
| Lissencephaly 6 With Microcephaly |
|
Spasticity, Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, ... |
OMIM:616212 |
| Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Cerebellar atroph... |
ORPHA:98755 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Dystonia 12 |
|
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait |
OMIM:128235 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Squalene Synthase Deficiency |
|
Low-set ears, Elevated urine mesaconic acid level, Hypocholesterolemia, Bicuspid aortic valve, De... |
OMIM:618156 |
| Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ... |
ORPHA:98760 |
| Myopathy With Extrapyramidal Signs |
|
Growth delay, Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of extrapyram... |
OMIM:615673 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Tremor, Ataxia |
OMIM:300983 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia,... |
OMIM:261640 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Oliguria, Resting tremor, Shock, Renal insufficiency, Excessive bleeding after a ven... |
ORPHA:319213 |
| Glycine Encephalopathy 1 |
|
Hyperglycinuria, Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Cerebellar atrophy, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia |
ORPHA:329284 |
| Familial Infantile Myoclonic Epilepsy |
|
Blepharospasm, Cerebellar atrophy, Limb myoclonus, Periventricular nodular heterotopia, Clumsines... |
ORPHA:352582 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Tremor, Cerebellar hypoplasia, Ataxia, Dystonia, Growth delay, Choreoathetosis |
OMIM:619422 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal heart mo... |
ORPHA:464321 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Impulsivity |
OMIM:617113 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dyst... |
ORPHA:420492 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal hemorrhage, Elevated circulating creatine kinase concentration, Hema... |
OMIM:611773 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia |
ORPHA:99014 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Myoclonus, Tremor |
OMIM:613608 |
| Spinocerebellar Ataxia 27A |
|
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno... |
OMIM:193003 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Acalvaria |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bif... |
ORPHA:945 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Ataxia |
OMIM:612020 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro... |
OMIM:614575 |
| Spinocerebellar Ataxia Type 42 |
|
Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t... |
ORPHA:458803 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Acroparesthesia, Limb myoclonus, Polymicrogyria, Myelomeningocele, Abnor... |
ORPHA:101030 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsiness, Eyelid myoc... |
ORPHA:2590 |
| Atypical Rett Syndrome |
|
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ... |
ORPHA:3095 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... |
ORPHA:352649 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... |
ORPHA:247234 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Retinal hemorrhage, Hematuria, Anorexia, Hepatomegaly, Tachycardia, Purpura, D... |
ORPHA:99827 |
| Phenylketonuria |
|
Lower limb spasticity, Tremor, Ataxia |
ORPHA:716 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sign |
ORPHA:477673 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor... |
ORPHA:101 |
| Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Cerebellar atrophy, Obesity, Oculomotor apraxia, Abnormal pyramidal... |
OMIM:616267 |
| Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Tremor, Abnormality of neuronal migr... |
ORPHA:475 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... |
ORPHA:53351 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,... |
OMIM:606693 |
| Huntington Disease-Like 2 |
|
Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia |
OMIM:606438 |
| Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Limb fasciculations, Dysmetria, Dis... |
OMIM:603516 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Low-set ears, Arrhythmia, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Elevated ci... |
OMIM:608836 |
| Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Difficulty walking, Limb ataxia, Gait ataxia, Myoclonus, Clumsiness, Torticol... |
ORPHA:98768 |
| Morm Syndrome |
|
Micropenis, Aggressive behavior, Hyperactivity, Abnormality of the kidney |
ORPHA:75858 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr... |
OMIM:602481 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Hyperactivity, Atrioventricular canal defect |
DECIPHER:39 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
| Spinocerebellar Ataxia With Epilepsy |
|
Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a... |
ORPHA:254881 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Tremor, Waddling gait |
OMIM:616269 |
| Meckel Syndrome, Type 8 |
|
Low-set ears, Hyperechogenic kidneys, Pericardial effusion, Polycystic kidney dysplasia, Enlarged... |
OMIM:613885 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis, Encephalocele, He... |
ORPHA:65 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Head tremor, Tremor, Pontocerebellar atroph... |
OMIM:606002 |
| Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d... |
OMIM:277460 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Intrauterine growth retardation |
ORPHA:1980 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty w... |
ORPHA:401768 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign... |
OMIM:128100 |
| Band Heterotopia |
|
Spasticity, Polymicrogyria, Hydrocephalus, Gray matter heterotopia, Subcortical band heterotopia |
OMIM:600348 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Polymicrogyria, Cerebellar vermis atrophy, Gait ataxia, Tremor, Delayed puberty, Abdominal obesit... |
OMIM:300354 |
| Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia |
OMIM:603472 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Gait imbalance, Postural tre... |
ORPHA:64753 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Distal sensory impai... |
ORPHA:90117 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Involuntary movements, Failure to thrive, Difficulty walking, Abnormality of coordina... |
ORPHA:442835 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Cerebellar vermis hypoplasia, Spasticity, Inability to walk, Postnatal growth retardation, Intrau... |
ORPHA:357058 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... |
OMIM:616586 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Low-set ears, Hypocholesterolemia, Splenomegaly, Atrial septal defect, Hepatomeg... |
OMIM:608776 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... |
ORPHA:99657 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... |
OMIM:606159 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Low-set ears, Bruxism, Tremor, Motor stereotypy, Hyperactivity, EEG abno... |
OMIM:618718 |
| Ataxia With Vitamin E Deficiency |
|
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... |
ORPHA:96 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Intrauterine growth retardation, Dysmetria, Tremor, Limb hypertonia, Hyperton... |
OMIM:617710 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, EEG with generalized epileptiform discharges, Inappropriate behavior, Ne... |
OMIM:619827 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Hypertonia, Short stature |
ORPHA:1192 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Cerebellar atrophy, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor... |
OMIM:614298 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Tremor, Ataxia |
OMIM:612126 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T... |
OMIM:618056 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, Tremor, Hyperkinetic movements, Gait disturbance, Short stature, Overweight... |
ORPHA:457240 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Obesity, Tremor, Dystoni... |
OMIM:300055 |
| Saccharopinuria |
|
Gait ataxia, Tremor, Distal sensory impairment, Short stature, Spastic diplegia |
ORPHA:3124 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Spastic paraparesis, Acroparesthesia, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, I... |
ORPHA:206443 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia, Sick ... |
OMIM:617182 |
| Attrv30M Amyloidosis |
|
Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal autonomic... |
ORPHA:85447 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Cerebellar atrophy, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Brad... |
OMIM:300894 |
| Brain Small Vessel Disease 2 |
|
Polymicrogyria, Hemiplegia, Subcortical heterotopia, Growth delay, Spastic tetraplegia |
OMIM:614483 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Dilated f... |
ORPHA:370959 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
| Autosomal Recessive Spastic Paraplegia Type 39 |
|
Spastic paraplegia, Cerebellar atrophy, Gait ataxia, Babinski sign, Lower limb spasticity |
ORPHA:139480 |
| Phenylketonuria |
|
Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, El... |
OMIM:261600 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor |
OMIM:614307 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... |
OMIM:261740 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Cerebellar atrophy, Inability to walk, Tremor, Dystonia, Choreoathetosis |
OMIM:617664 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Broad-based gait, Resting tremor, Obesity, Tremor, Parkinsonism, Lower limb spast... |
ORPHA:3077 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... |
ORPHA:240085 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit... |
ORPHA:99750 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia, Gro... |
ORPHA:70594 |
| Neuroferritinopathy |
|
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... |
ORPHA:157846 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Periventricular nodular heterotopia, Obesity, Intrauterine growth r... |
OMIM:619737 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Increased le... |
OMIM:271980 |
| Marburg Hemorrhagic Fever |
|
Excessive bleeding after a venipuncture, Anorexia, Tachycardia, Shock, Elevated circulating creat... |
ORPHA:99826 |
| Joubert Syndrome 30 |
|
Cerebellar atrophy, Polymicrogyria, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy... |
OMIM:617622 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Fasciculations, Intrauterine growth re... |
OMIM:620327 |
| Aicardi-Goutieres Syndrome 6 |
|
Intrauterine growth retardation, Tremor, Rigidity, Loss of ambulation, Dystonia |
OMIM:615010 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou... |
ORPHA:57777 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Intrauterine growth retardation, Abnormality of neuronal migration, Microliss... |
ORPHA:89844 |
| Gillespie Syndrome |
|
Cerebellar atrophy, Postural tremor, Cerebellar hypoplasia, Ataxia, Slurred speech |
OMIM:206700 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia |
ORPHA:306669 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Failure to thrive, Inability to walk, Cerebellar vermis atrophy, Gait ataxia, D... |
OMIM:617988 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Cerebral palsy, Intrauterine growth retardation, Tremor, Abnormal pyramidal sign, Gai... |
ORPHA:765 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon... |
ORPHA:99027 |
| Ataxia-Telangiectasia |
|
Spasticity, Failure to thrive, Tremor, Gait disturbance, Delayed puberty, Ataxia, Short stature |
ORPHA:100 |
| Smith-Magenis Syndrome |
|
Abnormal nerve conduction velocity, Abnormality of the urinary system, Head-banging, Hearing impa... |
OMIM:182290 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Distal sensory impairment... |
ORPHA:206594 |
| Hemimegalencephaly |
|
Polymicrogyria, Myoclonus, Hemiparesis, Pachygyria, Gray matter heterotopia |
ORPHA:99802 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration, Failure to thrive |
OMIM:236795 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... |
ORPHA:1215 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Proximal tubulopathy, Cardiomyopathy, Steatorrhea, Hypocholesterolemia, Tremor, ... |
OMIM:212065 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage |
OMIM:193235 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Polyphagia, Hypertension, Increased blood urea nitrogen, Macroscopic hematuria, Memb... |
ORPHA:251004 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Intrauterine growth retardation, Aplasia/Hypoplasia of the cer... |
ORPHA:2772 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia |
OMIM:619092 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Abnormal bleeding, Xanthelasma, Decreased glomerular filtrati... |
OMIM:232200 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Facial telangiectasia, Hydronephrosis, Aggressive behavior, Attention d... |
OMIM:620141 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Head tremor, Gait ataxia, Sp... |
ORPHA:95433 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:615558 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Cerebral palsy, Cerebellar vermis atrophy, Obesity, Abnormality of neuronal migration, Lower limb... |
ORPHA:163681 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... |
OMIM:619725 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Intrauterine g... |
OMIM:615356 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Splenomegaly, Hepatomegaly, Steatorrhea, Conjugated hyperbilirubinemia |
OMIM:607765 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Periventricular Nodular Heterotopia 7 |
|
Failure to thrive, Polymicrogyria, Periventricular nodular heterotopia, Ataxia, Gray matter heter... |
OMIM:617201 |
| Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi... |
ORPHA:227510 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Nephroblastoma |
OMIM:618272 |
| Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... |
ORPHA:48818 |
| Leptospirosis |
|
Acute kidney injury, Hypotension, Pulmonary hemorrhage, Retinal hemorrhage, Arrhythmia, Papillede... |
ORPHA:509 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, C... |
OMIM:615415 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Falls, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, Tremor, B... |
ORPHA:447753 |
| Spontaneous Periodic Hypothermia |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:29822 |
| Multiple System Atrophy |
|
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... |
ORPHA:102 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Episodic ataxia, Myoclonus, Tremor, Dystonia, Choreoathetosis |
OMIM:312170 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... |
OMIM:619911 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia, Micropenis, Hypertrophic cardiomyopathy |
OMIM:618810 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel... |
OMIM:607483 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Optic atrophy, Congestive heart f... |
OMIM:617303 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Intrauterine growth retardation, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cer... |
ORPHA:2518 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylaceto... |
OMIM:276700 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Dystonia, Athetosis |
ORPHA:382 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... |
OMIM:614473 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Tetraparesis, Gait ataxia, Myoclonus, Tremor, Limb dystonia,... |
ORPHA:363400 |
| Periventricular Nodular Heterotopia 1 |
|
Cerebellar hypoplasia, Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination |
ORPHA:36387 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... |
OMIM:619574 |
| Myopathy, Mitochondrial, And Ataxia |
|
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,... |
OMIM:617675 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Tremor, Gait disturbance, Abnormality of pain sensation, Ataxia, Poor coordination |
ORPHA:544254 |
| Bilateral Perisylvian Polymicrogyria |
|
Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, Bilateral perisylvian polymicrogyria,... |
ORPHA:98889 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Cerebellar hypoplasia, Ataxia, Short stature, Dystonia |
OMIM:616113 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Chorea, Gait ataxia, Spastic hemiparesis, Myoclonus... |
ORPHA:282166 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Gait ataxia, Hoffmann sign, Bab... |
OMIM:601162 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Intrauterine growth retardation, Tremor, Short stature, Growth delay |
OMIM:617744 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
| Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Tremor, Oculomotor apraxia, Gait dis... |
ORPHA:220497 |
| Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Tremor, Abnormality of neuronal migration,... |
ORPHA:1454 |
| Mucopolysaccharidosis, Type Iiib |
|
Hearing impairment, Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Aggressive be... |
OMIM:252920 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Eales Disease |
|
Epistaxis, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic stroke, Vit... |
ORPHA:40923 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Pontocerebellar atrophy, Failure to thrive, Tremor, Ataxia |
OMIM:608799 |
| Fetal Cytomegalovirus Syndrome |
|
Optic atrophy, Retinal hemorrhage, Splenomegaly, Petechiae, Sensorineural hearing impairment, Hep... |
ORPHA:294 |
| Gm2 Gangliosidosis, Ab Variant |
|
Postnatal growth retardation, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, ... |
ORPHA:309246 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Spasticity, Abnormal pyramidal sign, Gray matter heterotopia, Spastic tetraplegia, Spastic diplegia |
OMIM:617008 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Spastic tetraplegia, Failure to thrive, Pachygyria, Neonatal death,... |
OMIM:620024 |
| Man1B1-Cdg |
|
Broad-based gait, Resting tremor, Periventricular heterotopia, Cerebellar hypoplasia, Truncal obe... |
ORPHA:397941 |
| Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus, Failure to thrive, Hypertonia |
ORPHA:1895 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Xanthelasma, Decreased glomerular filtration rate, Hyperlipid... |
OMIM:232220 |
| Tay-Sachs Disease |
|
Cerebellar atrophy, Fasciculations, Incoordination, Inability to walk, Laryngeal dystonia, Myoclo... |
ORPHA:845 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Difficulty walking, Dysmetria, Tremor, Cerebellar hypoplasia, Short ... |
ORPHA:502423 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Failure to thrive, Tremor, Abnormality of neuronal migration, Gait ... |
ORPHA:2754 |
| Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, EEG with burst suppression, Decreased nerve conduction velocity, Elevated ci... |
OMIM:615368 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Abnormal cerebellum morphology, Tremor |
OMIM:190310 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait |
ORPHA:209335 |
| Optic Atrophy 11 |
|
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... |
OMIM:617302 |
| Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Alg11-Cdg |
|
Failure to thrive, Opisthotonus, Limb hypertonia, Hypertonia, Ataxia, Gray matter heterotopia |
ORPHA:280071 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Cerebellar hypoplasia, Abnormal pyramidal sign, Ataxia, Dystonia |
ORPHA:453533 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis |
OMIM:233910 |
| Galloway-Mowat Syndrome 1 |
|
Spasticity, Spastic tetraplegia, Cerebellar atrophy, Pachygyria, Intrauterine growth retardation,... |
OMIM:251300 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Hyperactivity, Self-bitin... |
OMIM:618314 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Spasticity, Rhizomelia, Cerebellar atrophy, Intrauterine growth retardation, Myoclonus, Tremor, H... |
OMIM:616271 |
| Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, At... |
ORPHA:2318 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Nephrocalcinosis, Abnormal bleeding, Bruising susceptibility, Xanthelasma, Stage 5 chr... |
ORPHA:79259 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Intrauterine growth retardation, Tremor, Dysmetria |
OMIM:615578 |
| Familial Exudative Vitreoretinopathy |
|
Hearing impairment, Abnormal optic disc morphology, Vitreous hemorrhage, Retinal neovascularizati... |
ORPHA:891 |
| Neurocutaneous Melanocytosis |
|
Chiari malformation, Hemiparesis, Abnormality of neuronal migration, Aplasia/Hypoplasia of the ce... |
ORPHA:2481 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... |
OMIM:314390 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Spasticity, Difficulty walking, Periventricular heterotopia, Rigidity, Cerebellar hypoplasia, Chi... |
OMIM:618476 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Decreased body weight, Short stature, Tremor, Ataxia |
OMIM:278760 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... |
ORPHA:240071 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Low-set ears, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, He... |
OMIM:306955 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
| Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... |
OMIM:115197 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Tremor, Ataxia |
OMIM:607876 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Difficulty walking, Intrauterine growth retarda... |
ORPHA:572798 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal h... |
ORPHA:505248 |
| Autosomal Recessive Primary Microcephaly |
|
Short stature, Gray matter heterotopia, Growth delay, Pachygyria |
ORPHA:2512 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Hyperlysinuria, Optic nerve hypoplasia, Hyperlysinemia, Cystinuria, Hyperactivi... |
OMIM:238700 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... |
OMIM:612953 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Tremor, Oculomotor apraxia, Gait dis... |
ORPHA:220493 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Short stature, Abnormality of neuronal migration |
ORPHA:2204 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Abnormal bleeding, Congestive heart failure, Hypocholestero... |
ORPHA:14 |
| Perry Syndrome |
|
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Br... |
OMIM:168605 |
| Diaphanospondylodysostosis |
|
Low-set ears, Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic re... |
OMIM:608022 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cervical myelopathy, Myelopathy, Tetraparesis, Tremor, Rigidity, Cerebellar edema, Torticollis, A... |
OMIM:617186 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
EEG with burst suppression, Hypsarrhythmia, Atrial septal defect, Hyperactivity, Pulmonic stenosis |
OMIM:619239 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Desmosterolosis |
|
Severe short stature, Spasticity, Abnormal cortical gyration, Failure to thrive, Polymicrogyria, ... |
ORPHA:35107 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Increased circulating... |
ORPHA:3240 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Hematochezia, Vasculitis in the skin, Elevated circulating C-reactive protein concent... |
OMIM:617718 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatine kinase co... |
ORPHA:96180 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Failure to thrive, Cerebral palsy, Intrauterine growth retardation, Periventricular heterotopia, ... |
OMIM:619833 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Leukoencephalopathy With Ataxia |
|
Limb ataxia, Gait ataxia, Action tremor |
OMIM:615651 |
| Perry Syndrome |
|
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Enuresis, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyp... |
ORPHA:247585 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Ventricular septal defect, Atrial septa... |
OMIM:270400 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Myoclonus, Tremor, Loss of ambulation, Right hemiplegia, Ataxia |
OMIM:607426 |
| Tetrasomy 18P |
|
Abnormality of neuronal migration, Gait disturbance |
ORPHA:3307 |
| Orofaciodigital Syndrome Xvi |
|
Inability to walk, Oculomotor apraxia, Gray matter heterotopia, Ataxia |
OMIM:617563 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Myoclonus, Gait ataxia, Action tremor, Unsteady gait, Intent... |
OMIM:254900 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... |
OMIM:616881 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Renal dysplasia, Stage 5 chronic kidney disease, Situs inversus totalis, S... |
OMIM:208540 |
| Waldenström Macroglobulinemia |
|
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Hearing impairment, Conges... |
ORPHA:33226 |
| Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul... |
ORPHA:79330 |
| East Syndrome |
|
Cerebellar atrophy, Difficulty walking, Inability to walk, Action tremor, Ataxia |
ORPHA:199343 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Olivopontocerebellar atrophy, Babinski sign, Parkinsonism, Ataxia, Bradykinesia |
OMIM:146500 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa... |
OMIM:613280 |
| Alg12-Cdg |
|
Hypoalbuminemia, Biventricular hypertrophy, Hypocholesterolemia, Muscular ventricular septal defe... |
ORPHA:79324 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| 6Q Terminal Deletion Syndrome |
|
Failure to thrive, Polymicrogyria, Obesity, Gait ataxia, Periventricular heterotopia, Dysmetria, ... |
ORPHA:75857 |
| Walker-Warburg Syndrome |
|
Lissencephaly, Abnormal cortical gyration, Polymicrogyria, Cerebellar hypoplasia, Abnormality of ... |
ORPHA:899 |
| H Syndrome |
|
Hearing impairment, Hepatosplenomegaly, Facial telangiectasia, Abnormal cardiovascular system phy... |
ORPHA:168569 |
| Sialidosis Type 1 |
|
Myoclonus, Tremor, Gait disturbance, Ataxia, Short stature, Slurred speech |
ORPHA:812 |
| Amyloidosis, Hereditary Systemic 1 |
|
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... |
OMIM:105210 |
| Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Dystonia, Vitreous hemorrhage, Hypsa... |
OMIM:620371 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Asparagine Synthetase Deficiency |
|
Cerebellar vermis hypoplasia, Failure to thrive, Hypoplasia of the pons, Intrauterine growth reta... |
OMIM:615574 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Decreased nerve conduction velocity, Head tremor, Restless legs, Sensorineural heari... |
ORPHA:101085 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Prolonged bleeding time, Biventricular hypert... |
OMIM:618280 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... |
OMIM:130650 |
| Atelis Syndrome 2 |
|
Low-set ears, Protruding ear, Attention deficit hyperactivity disorder, Vitreous hemorrhage, Supr... |
OMIM:620185 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Short stature, Holoprosencephaly |
ORPHA:93274 |
| Neu-Laxova Syndrome |
|
Lissencephaly, Abnormal cortical gyration, Polymicrogyria, Intrauterine growth retardation, Cereb... |
ORPHA:2671 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Renal insufficiency, Abnormality of peripheral nerve conductio... |
ORPHA:90321 |
| Parkinson Disease 20, Early-Onset |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ... |
OMIM:615530 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Urinary hesitancy, Sensorineural hearing impairment, Hyperactivity, ... |
OMIM:609727 |
| Meacham Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Scimitar anomaly, Ventricular sept... |
OMIM:608978 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Lissencephaly, Polymicrogyria, Type II lissencephaly, Encephalocele, Cerebellar hypoplasia, Hydro... |
OMIM:614643 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Low-set ears, Acute kidney injury, Oliguria, Polydipsia, Gastrointestinal hemorrhage, Recurrent u... |
ORPHA:731 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance |
ORPHA:83629 |
| Galloway-Mowat Syndrome |
|
Pachygyria, Intrauterine growth retardation, Hemiplegia/hemiparesis, Abnormality of neuronal migr... |
ORPHA:2065 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Chronic kidney disease, Glutaric aciduria, Subdural hemorrhage, Limb dystonia, Tremor, Retinal he... |
ORPHA:25 |
| Radio-Tartaglia Syndrome |
|
Obesity, Gait imbalance, Tremor, Ataxia, Gray matter heterotopia |
OMIM:619312 |
| Developmental And Epileptic Encephalopathy 4 |
|
Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Tremor |
OMIM:612164 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
| Tangier Disease |
|
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Left ventricu... |
ORPHA:31150 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Arteritis, Urethritis, Hematuria, Tubulointerstitial nephritis, Elevated ... |
ORPHA:449395 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Low-set ears, Cupped ear, Recurrent urinary tract infections, Abnormal heart m... |
OMIM:615873 |
| Alg9-Cdg |
|
Low-set ears, Hypoplasia of the bladder, Large fleshy ears, Abnormal heart morphology, Low-set, p... |
ORPHA:79328 |
| Ogden Syndrome |
|
Low-set ears, Recurrent otitis media, Torsade de pointes, Hyperbilirubinemia, Ventricular septal ... |
OMIM:300855 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529799 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a... |
ORPHA:228308 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
| Alkuraya-Kucinskas Syndrome |
|
Lissencephaly, Cerebellar dysplasia, Cerebellar hypoplasia, Oculomotor apraxia, Hydrocephalus, Gr... |
OMIM:617822 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Hearing impairment, Elevated circulating crea... |
OMIM:618838 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Tongue tremor, Somatic sensory dysfunction, Tip-toe gait, Fascicula... |
ORPHA:466768 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Spasticity |
OMIM:619694 |
| Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
| Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele, Dandy-Walker malformation |
OMIM:164180 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Increased serum beta-hexosaminidase, Congestive heart failure, Hypertrophic... |
OMIM:252500 |
| Mend Syndrome |
|
Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morpholo... |
ORPHA:401973 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Heart murmur, M... |
OMIM:617600 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Spasticity, Cerebellar atrophy, Resting tremor, Head tremor, Babinski sign, Ataxia |
ORPHA:314404 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, EEG with burst suppression, Hyperglycinemia, Partial atrioventricular canal defect... |
OMIM:620423 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Resting tre... |
ORPHA:909 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia |
OMIM:618527 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity |
OMIM:260540 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Olivopontocerebella... |
ORPHA:468631 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Pulmonary venous hypertension, Raynaud phenomenon, Enlarged kidney |
ORPHA:79128 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Tongue thrusting, Limb tremor, Tort... |
OMIM:608643 |
| Sandhoff Disease |
|
Urinary incontinence, Hepatosplenomegaly, Increased urinary N-acetylglucosamine-rich oligosacchar... |
OMIM:268800 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Hematuria, Proteinuria, Telangiect... |
OMIM:192315 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Nephrocalcinosis, Restrictive cardiomyopathy, Bruising susceptibilit... |
ORPHA:758 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Failure to thrive, Intrauterine growth retardation, Intention tremor, Tremor, Neonatal death, Ata... |
OMIM:614052 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Inability to walk, Myoclonus, Intention tremor, Tremor, Delayed puberty, Ataxi... |
OMIM:208900 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
| 3C Syndrome |
|
Postnatal growth retardation, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebe... |
ORPHA:7 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Juvenile Xanthogranuloma |
|
Hyphema |
ORPHA:158000 |
| Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Re... |
ORPHA:90363 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Postnatal growth retardation, Intra... |
OMIM:300966 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating creatinine concentr... |
ORPHA:91500 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculogyric crisis, Growth delay, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Freque... |
OMIM:612716 |
| Kaufman Oculocerebrofacial Syndrome |
|
Low-set ears, Hypocholesterolemia, Ventricular septal defect, Atrial septal defect, Optic disc pa... |
OMIM:244450 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... |
ORPHA:449291 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Failure to thrive, Tremor, Ataxia |
OMIM:201100 |
| Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Hypert... |
ORPHA:192 |
| 9Q21.13 Microdeletion Syndrome |
|
Difficulty walking, Postnatal growth retardation, Gray matter heterotopia |
ORPHA:531151 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torsion dystonia, Tremor, Torticollis |
OMIM:224500 |
| Dubowitz Syndrome |
|
Low-set ears, Hypocholesterolemia, Otitis media, Protruding ear, Hyperactivity, Hypospadias |
OMIM:223370 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
| Thanatophoric Dysplasia |
|
Gray matter heterotopia, Intrauterine growth retardation, Disproportionate short-limb short statu... |
ORPHA:2655 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morphology, EEG with burst supp... |
ORPHA:171929 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Hyphema, Recurrent otitis media, Ventricular... |
ORPHA:261552 |
| Legius Syndrome |
|
Hearing impairment, Male urethral meatus stenosis, Xanthelasma, Vestibular schwannoma, Mitral val... |
ORPHA:137605 |
| Neonatal Adrenoleukodystrophy |
|
Short stature, Abnormality of neuronal migration |
ORPHA:44 |
| Retinoblastoma |
|
Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Hyphema |
ORPHA:790 |
| Acrocephalopolydactylous Dysplasia |
|
Low-set ears, Hepatomegaly, Abnormal pinna morphology, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
| X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Aganglionic megacolon, Hyperactivity, Abnormal circulating creatine concentratio... |
ORPHA:52503 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia |
OMIM:168600 |
| Vici Syndrome |
|
Short stature, Gray matter heterotopia, Hypoplasia of the pons, Cerebellar hypoplasia |
ORPHA:1493 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Otosclerosis, Visceromegaly, Hearing impairment, Abnormal earlobe morphology, Hypert... |
ORPHA:116 |
| Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Mitral regurgitation, Mitral valve prolapse, Exaggerated startle response |
ORPHA:309155 |
| Hyperlysinemia |
|
Poor motor coordination, Tip-toe gait, Failure to thrive, Dysmetria, Tremor, Neck hypertonia, Opi... |
ORPHA:2203 |
| Cerebrofacioarticular Syndrome |
|
Short stature, Cerebellar vermis hypoplasia, Gray matter heterotopia, Ataxia |
ORPHA:314679 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... |
OMIM:609136 |
| Early Infantile Epileptic Encephalopathy |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Episodic ataxia, Myoclonus, Tremor, Pachygyria... |
ORPHA:1934 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory impairment, Trem... |
ORPHA:99956 |
| 12Q14 Microdeletion Syndrome |
|
Chiari malformation, Failure to thrive, Intrauterine growth retardation, Tremor, Short stature |
ORPHA:94063 |
| Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Cardiomyopathy, Cond... |
ORPHA:90324 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Mitral valve pro... |
ORPHA:500095 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Obesity, Tremor, Abnormal pyramidal sign, Ataxia, Short stature, Unsteady gait |
OMIM:614947 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Failure to thrive, Gait ataxia, Cogwheel rigidity, Tremor, Ri... |
ORPHA:254892 |
| Adult Krabbe Disease |
|
Urinary incontinence, Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... |
OMIM:133540 |
| Brain-Lung-Thyroid Syndrome |
|
Megacystis, Abnormal eating behavior, Vesicoureteral reflux, Intention tremor, Patent foramen ova... |
ORPHA:209905 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... |
ORPHA:67036 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... |
OMIM:216400 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
| Alexander Disease |
|
Spasticity, Failure to thrive, Chorea, Tremor, Abnormal pyramidal sign, Clonus, Tetraplegia, Gait... |
ORPHA:58 |
| Endocrine-Cerebroosteodysplasia |
|
Low-set ears, Microphallus, Hyperechogenic kidneys, Hypospadias, Enlarged kidney |
OMIM:612651 |
| Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Palpitations, Abnormal circulating albumin concentration, Abnormal circulating... |
ORPHA:86839 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia |
ORPHA:683 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Mitral valve prolapse, Angina pectoris, Cerebral hemorrhage, Retinal... |
OMIM:177850 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
| Hyperparathyroidism, Transient Neonatal |
|
Low-set ears, Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
| Leprechaunism |
|
Low-set ears, Nephrocalcinosis, Long penis, Hyperaldosteronism, Hypertrophic cardiomyopathy, Hypo... |
ORPHA:508 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia |
OMIM:613091 |
| Thanatophoric Dysplasia, Type I |
|
Disproportionate short-limb short stature, Lethal short-limbed short stature, Neonatal death, Hyd... |
OMIM:187600 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor functi... |
OMIM:234200 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Enlarged kidney, Nephroblastoma, Microtia |
ORPHA:276280 |
| Niemann-Pick Disease Type C |
|
Cataplexy, Cerebellar vermis atrophy, Speech apraxia, Chorea, Myoclonus, Limb dystonia, Tremor, A... |
ORPHA:646 |
| Pseudo-Torch Syndrome 2 |
|
Cerebellar hypoplasia, Gray matter heterotopia, Polymicrogyria |
OMIM:617397 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Periodic paralysis, Tremor |
OMIM:613239 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Opisthotonus, Hypertonia, Tremor, Growth delay |
OMIM:250800 |
| Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, EEG abnormality, Hyperactivity, Exaggerated startle response, Macrotia |
OMIM:617281 |
| Hyperekplexia 3 |
|
Syncope, Exaggerated startle response |
OMIM:614618 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Idiopathic Aplastic Anemia |
|
Gingival bleeding, Epistaxis, Retinal hemorrhage, Ecchymosis |
ORPHA:88 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
| Holoprosencephaly |
|
Spasticity, Spinal dysraphism, Failure to thrive in infancy, Chorea, Encephalocele, Abnormality o... |
ORPHA:2162 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Spasticity, Hemiplegia, Postnatal growth retardation, Intrauterine growth retardation, Tremor, Ab... |
OMIM:612199 |
| Central Retinal Vein Occlusion |
|
Papilledema, Retinal neovascularization, Intraretinal hemorrhage |
ORPHA:411527 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Partial development of the penile shaft, Exaggerated startle response, Bradycardia |
OMIM:608800 |
| Metachromatic Leukodystrophy |
|
Tip-toe gait, Incoordination, Tremor, Dystonia, Gait disturbance, Ataxia, Decerebrate rigidity, P... |
ORPHA:512 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Optic atrophy, Exaggerated startle response |
OMIM:609541 |
| Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
| Stiff-Person Syndrome |
|
Tachycardia, Opisthotonus, Hypertension, Exaggerated startle response |
OMIM:184850 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Abnormality of neuronal migration, Hydrocephalus, P... |
ORPHA:157 |
| Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Episodic hemiplegia, Tetraparesis, Chorea, Tremor, Rigidity, Abnormal pyramida... |
ORPHA:2131 |
| Arima Syndrome |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Occipital meningocele, Ataxia, Gray matte... |
OMIM:243910 |
| Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Cerebellar atrophy, Periventricular heterotopia, Hydrocephalus, Partial... |
OMIM:619895 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Transp... |
OMIM:253800 |
| Parkinson Disease 21 |
|
Parkinsonism, Bradykinesia, Tremor, Rigidity |
OMIM:616361 |
| 16P13.11 Microdeletion Syndrome |
|
Short stature, Abnormality of neuronal migration, Holoprosencephaly, Hypertonia |
ORPHA:261236 |
| Phacoanaphylactic Uveitis |
|
Retinal arteritis, Hyphema |
ORPHA:209959 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... |
ORPHA:1478 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Macrotia, EEG with generalized slow activity |
OMIM:617864 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Hearing impairment, Exaggerated startle response |
OMIM:620114 |
| Miller-Dieker Lissencephaly Syndrome |
|
Failure to thrive, Progressive spastic paraplegia, Pachygyria, Intrauterine growth retardation, G... |
OMIM:247200 |
| Gm1 Gangliosidosis Type 1 |
|
Low-set ears, Hearing impairment, Cardiomyopathy, Hepatosplenomegaly, Urinary glycosaminoglycan e... |
ORPHA:79255 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Spasticity, Occipital encephalocele, Agenesis of cerebellar vermis, Type II lissencephaly, Cerebe... |
OMIM:615287 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... |
ORPHA:2211 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Dystonia, Periventricular heterotopia |
OMIM:614105 |
| Bohring-Opitz Syndrome |
|
Failure to thrive, Intrauterine growth retardation, Mesomelic/rhizomelic limb shortening, Short s... |
OMIM:605039 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Simplified gy... |
OMIM:615219 |
| Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Cerebellar vermis hypoplasia, Polymicrogyria |
OMIM:619775 |
| Choreoacanthocytosis |
|
Resting tremor, Limb dystonia, Hair-pulling, Lingual dystonia, Hepatomegaly, Dysphagia, Socially ... |
ORPHA:2388 |
| Rift Valley Fever |
|
Gingival bleeding, Abnormal bleeding, Anorexia, Hematuria, Hematemesis, Melena, Retinal hemorrhage |
ORPHA:319251 |
| Tuberous Sclerosis Complex |
|
Self-injurious behavior, Chronic kidney disease, Cardiac rhabdomyoma, Renal insufficiency, Stage ... |
ORPHA:805 |
| Cockayne Syndrome |
|
Urinary incontinence, Renal hypoplasia, Unilateral renal agenesis, Optic atrophy, Progressive sen... |
ORPHA:191 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ... |
ORPHA:199351 |
| Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypsarrhythmi... |
ORPHA:521426 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Failure to thrive, Polymicrogyria, Loss of ambulation, Gray matter heterotopia, Unsteady gait, Fr... |
OMIM:214100 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response |
OMIM:617301 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Low-set ears, Optic atrophy, Hyperprolinemia, Hyperalaninemia, Lacticaciduria, Exaggerated startl... |
OMIM:620451 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus, Lethal short-limbed short stature |
ORPHA:1860 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Hearing imp... |
OMIM:312870 |
| Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
| Van Maldergem Syndrome 1 |
|
Periventricular nodular heterotopia, Gray matter heterotopia, Pachygyria, Growth delay, Subcortic... |
OMIM:601390 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Intrauterine growth retardation, Abnormality of neuronal migration, Birth leng... |
ORPHA:464311 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, Axial dystonia, Pa... |
OMIM:601104 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Low-set ears, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension |
OMIM:614653 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Chiari malformation, Polymicrogyria, Postnatal growth retardation, ... |
OMIM:304050 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia, Spasticity |
OMIM:618797 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Neonatal death, Polymicrogyria |
OMIM:614887 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hearing impairment, Sensorineural hearing impairment, Cortical nephrocal... |
ORPHA:51608 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Gray matter heterotopia, Lower limb spasticity |
OMIM:620475 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Gray matter heterotopia |
ORPHA:26791 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Short stature, Cerebellar vermis hypoplasia, Obesity, Gray matter heterotopia |
OMIM:620654 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Low-set ears, Hypospadias, Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelv... |
OMIM:619522 |
| Koolen-De Vries Syndrome |
|
Failure to thrive, Intrauterine growth retardation, Short stature, Gray matter heterotopia, Small... |
OMIM:610443 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Abnormal pinna morphology, Exaggerated startle response |
ORPHA:438216 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Short stature, Periventricular heterotopia |
OMIM:618870 |
| Incontinentia Pigmenti |
|
Congestive heart failure, Cerebral ischemia, Attention deficit hyperactivity disorder, Telangiect... |
ORPHA:464 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response, Posteriorly rotated ears |
OMIM:617527 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun... |
ORPHA:3427 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia, Obesity |
OMIM:608624 |
| Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia, Intrauterine growth retardation, Impaired pain sensation, Failure to thrive |
ORPHA:453499 |
| Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Spasticity, Failure to thrive, Tremor, Dysmetria, Ataxia, Truncal a... |
OMIM:220111 |
| Vici Syndrome |
|
Gray matter heterotopia, Postnatal growth retardation, Failure to thrive, Cerebellar vermis hypop... |
OMIM:242840 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Disproportionate short stature, Failure... |
OMIM:210710 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Hypertonia, Tremor, Rigidity |
OMIM:176500 |
| Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage, Chronic otitis m... |
OMIM:608710 |
| Pierson Syndrome |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Diffuse mesang... |
OMIM:609049 |
| Trichinellosis |
|
Tinnitus, Retinal hemorrhage, Facial palsy, Dysphagia |
ORPHA:863 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Low-set ears, Abnormal circulating apolipoprotein concentration, Subretinal pigment epithelium he... |
ORPHA:357074 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased circulating iron concentration, Abnormal heart morphology, Vesicoureteral reflux, Paten... |
ORPHA:438213 |
| Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Growth delay, Subcortical band hete... |
OMIM:615546 |
| Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Short stature, Cerebellar cyst, Gray... |
OMIM:311200 |
| Proteus Syndrome |
|
Low-set ears, Long penis, Pulmonary embolism, Narrow internal auditory canal, Splenomegaly, Enlar... |
ORPHA:744 |
| Opitz-Kaveggia Syndrome |
|
Short stature, Spasticity, Gray matter heterotopia, Hydrocephalus |
OMIM:305450 |
| Retinoblastoma |
|
Vitreous hemorrhage |
OMIM:180200 |
| Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Failure to thrive, Intrauterine growth retardation, Periventricular... |
OMIM:612289 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
| Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Broad-based gait, Polymicrogyria |
OMIM:618918 |
| Neuromuscular Oculoauditory Syndrome |
|
Unsteady gait, Periventricular heterotopia |
OMIM:618733 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia |
ORPHA:1578 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Inability to walk, Gray matter heterotopia, Growth delay, Impaired pain sensation |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Inability to walk, Gray matter heterotopia, Growth delay, Impaired pain sensation |
ORPHA:352665 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Periventricular heterotopia |
OMIM:618929 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Dysphagia, Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
| Nijmegen Breakage Syndrome |
|
Short stature, Cachexia, Abnormality of neuronal migration |
ORPHA:647 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Holoprosencephaly, Chiari malformation, Polymicrogyria |
OMIM:618820 |
| Pagod Syndrome |
|
Encephalocele, Abnormality of neuronal migration, Spina bifida, Short stature, Meningocele |
ORPHA:991 |
| Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Intrauterine growth retardation, Stillbirth, Gray matter heterotopia,... |
OMIM:236680 |
| Incontinentia Pigmenti |
|
Retinal hemorrhage, Optic atrophy |
OMIM:308300 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Facial paralysis, Ischemic stroke, Peripapillary atrophy, Corneal neovascularization, Limb dyston... |
OMIM:175780 |
| Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Retrocerebellar cyst, Encephalocele |
OMIM:603671 |
| Sympathetic Ophthalmia |
|
Tinnitus, Papilledema, Retinal hemorrhage, Hearing impairment |
ORPHA:79098 |
| Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Polymicrogyria, Periventricular heterotopi... |
OMIM:615948 |
| 16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia |
ORPHA:261250 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration, Holoprosencephaly |
ORPHA:3186 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Spasticity, Broad-based gait, Impaired pain sensation, Failure to t... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Broad-based gait, Spasticity, Impaired pain sensation, Polymicrogyr... |
ORPHA:2152 |
| Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia |
OMIM:276300 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Periventricular heterotopia, Dandy-Walker malformation |
ORPHA:434179 |
| Genitopatellar Syndrome |
|
Pachygyria, Periventricular heterotopia |
OMIM:606170 |
