Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... |
ORPHA:171622 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance |
ORPHA:98766 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... |
OMIM:615268 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cerebellar agenesis |
ORPHA:1397 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre... |
ORPHA:284332 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Torticollis, Dysphagia |
OMIM:611694 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi... |
OMIM:616291 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intent... |
OMIM:608029 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Growt... |
OMIM:614322 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagi... |
OMIM:302500 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... |
ORPHA:276193 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Attention deficit hype... |
OMIM:605361 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus |
OMIM:600143 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Short stature, Hand tremor, Gait ataxia, Dysphagia, Recurre... |
OMIM:617862 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... |
ORPHA:423275 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Dysphagia, Athetosis, Dysd... |
OMIM:248900 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... |
OMIM:610357 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Fr... |
OMIM:617691 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigid... |
OMIM:618090 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Gait ataxia, Dysdiadochokinesis, ... |
OMIM:224050 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressiv... |
OMIM:617225 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Dysmetria... |
OMIM:213200 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia, Cerebellar ... |
OMIM:614229 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ata... |
OMIM:616230 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Short stature, Ataxia, Trem... |
OMIM:610185 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... |
OMIM:605259 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... |
OMIM:616127 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dys... |
OMIM:618088 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande... |
OMIM:619028 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Brady... |
ORPHA:248111 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Lower limb spasticity, Impaired te... |
OMIM:619686 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, H... |
OMIM:604326 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus |
OMIM:125370 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Tremor, Inability to walk, A... |
OMIM:614831 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... |
OMIM:607565 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Aggressive behavior, Gait ataxia, Lower limb hyp... |
OMIM:618369 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... |
ORPHA:98 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
Huntington Disease |
|
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... |
ORPHA:399 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor,... |
ORPHA:98764 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo... |
OMIM:256731 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea... |
OMIM:607136 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... |
OMIM:117360 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation |
OMIM:617916 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Spastic para... |
OMIM:614877 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Dysphagia |
ORPHA:71517 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Dysphag... |
ORPHA:363717 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Growth delay, Hype... |
OMIM:619738 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait dist... |
OMIM:210000 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia |
OMIM:143100 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Poor motor coordination, Tre... |
ORPHA:1170 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Short stature, Babinski sign, Sensory ataxia, Gait ataxia, Decreased body weight |
ORPHA:445062 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi... |
OMIM:603516 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy, Ataxia, Severe temper tantrums, Dysmetria, Gait ataxia, Attention deficit hyp... |
OMIM:614306 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Ataxia... |
ORPHA:251347 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysphagia, Dysdiadochokinesis, Myoclonus, ... |
OMIM:614487 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive b... |
OMIM:618917 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Dysphagia, Progressive cer... |
OMIM:183086 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Babin... |
OMIM:159550 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady ... |
ORPHA:397946 |
Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... |
OMIM:183090 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Aggressive behavior, Tremor, Parapare... |
OMIM:615157 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Dysphagia, Spastic dysarthria, Dysdiadochokinesis, Cerebel... |
ORPHA:313772 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia |
OMIM:612020 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... |
OMIM:137440 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Dysphagia, H... |
OMIM:614153 |
Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... |
ORPHA:98759 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Aggressive behavior, Impulsi... |
OMIM:607454 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Spasticit... |
OMIM:611390 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria... |
ORPHA:276198 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia |
OMIM:613909 |
Spinocerebellar Ataxia Type 10 |
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Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Aggressive behavior, Unsteady gait, Ba... |
ORPHA:98761 |
Spinocerebellar Ataxia Type 32 |
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Cerebellar atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Autosomal Recessive Spastic Paraplegia Type 39 |
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Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Gait ataxia |
ORPHA:139480 |
Boucher-Neuhauser Syndrome |
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Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Spasticity, Intention tremor |
OMIM:215470 |
East Syndrome |
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Cerebellar atrophy, Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia, Acti... |
ORPHA:199343 |
Spinocerebellar Ataxia Type 18 |
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Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Fragile X Tremor/Ataxia Syndrome |
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Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal... |
OMIM:300623 |
Spinocerebellar Ataxia Type 13 |
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Cerebellar atrophy, Torticollis, Short stature, Impaired distal vibration sensation, Limb ataxia,... |
ORPHA:98768 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
Ataxia-Oculomotor Apraxia 3 |
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Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls |
OMIM:615217 |
Brain-Lung-Thyroid Syndrome |
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Hyperactivity, Incoordination, Short stature, Ataxia, Involuntary movements, Abnormal eating beha... |
ORPHA:209905 |
Ataxia-Oculomotor Apraxia 4 |
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Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra... |
OMIM:616267 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
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Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Postnatal growth retardation, P... |
OMIM:620242 |
Ataxia With Vitamin E Deficiency |
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Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Developmental And Epileptic Encephalopathy 106 |
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Postnatal growth retardation, Cerebellar hypoplasia, Limb hypertonia |
OMIM:620028 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
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Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Positive Romberg sign, Cerebellar vermis at... |
OMIM:614575 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Cerebellar atrophy, Salt craving, Short stature, Ataxia, Dysdiadochokinesis, Polydipsia, Intentio... |
OMIM:612780 |
Marchiafava-Bignami Disease |
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Ataxia, Aggressive behavior, Rigidity, Abnormal pyramidal sign, Gait ataxia, Hemiparesis, Gait di... |
ORPHA:221074 |
Hereditary Central Diabetes Insipidus |
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Growth delay, Polydipsia, Weight loss |
ORPHA:30925 |
Kleine-Levin Syndrome |
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Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... |
ORPHA:33543 |
Crome Syndrome |
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Short stature, Cerebellar dysplasia |
OMIM:218900 |
Central Diabetes Insipidus |
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Polydipsia, Failure to thrive, Anorexia, Weight loss |
ORPHA:178029 |
Methanol Poisoning |
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Addictive alcohol use, Abnormal cerebellar cortex morphology |
ORPHA:31825 |
Septo-Optic Dysplasia Spectrum |
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Short stature, Hemiplegia/hemiparesis, Obesity, Aplasia/Hypoplasia of the cerebellum, Polydipsia |
ORPHA:3157 |
Argininemia |
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Cerebellar atrophy, Hyperactivity, Anorexia, Postnatal growth retardation, Progressive spastic qu... |
OMIM:207800 |
Polyendocrine-Polyneuropathy Syndrome |
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Postnatal growth retardation, Short stature, Cerebellar hypoplasia, Ataxia |
OMIM:616113 |
Polyendocrine-Polyneuropathy Syndrome |
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Postnatal growth retardation, Abnormal pyramidal sign, Cerebellar hypoplasia, Ataxia |
ORPHA:453533 |
Cystinosis |
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Short stature, Abnormal pyramidal sign, Gait disturbance, Delayed puberty, Polydipsia, Failure to... |
ORPHA:213 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Postnatal growth retardation, Intrauterine growth retardation, Cerebellar hypoplasia |
OMIM:615190 |
Whipple Disease |
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Ataxia, Cachexia, Anorexia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Polydipsia |
ORPHA:3452 |
Familial Cold Urticaria |
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Dysesthesia, Polydipsia |
ORPHA:47045 |
Bardet-Biedl Syndrome 9 |
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Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
Type 1 Diabetes Mellitus |
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Polydipsia, Polyphagia |
OMIM:222100 |
Erdheim-Chester Disease |
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Abnormal cerebellum morphology, Polydipsia, Ataxia, Weight loss |
ORPHA:35687 |
Pediatric-Onset Graves Disease |
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Hyperactivity, Tremor, Hyperkinetic movements, Intrauterine growth retardation, Polydipsia, Failu... |
ORPHA:525731 |
Renal Glucosuria |
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Polydipsia, Polyphagia |
OMIM:233100 |
Gitelman Syndrome |
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Salt craving, Ataxia, Paralysis, Growth delay, Paresthesia, Delayed puberty, Polydipsia, Failure ... |
OMIM:263800 |
Arima Syndrome |
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Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Gr... |
OMIM:243910 |
Senior-Loken Syndrome 4 |
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Polydipsia |
OMIM:606996 |
Nephrogenic Diabetes Insipidus |
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Short stature, Anorexia, Growth delay, Polydipsia, Failure to thrive |
ORPHA:223 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Polydipsia, Failure to thrive, Short stature |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
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Polydipsia, Failure to thrive, Short stature |
OMIM:304800 |
Acquired Central Diabetes Insipidus |
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Polydipsia, Weight loss |
ORPHA:95626 |
Secondary Non-Traumatic Avascular Necrosis |
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Addictive alcohol use, Difficulty walking |
ORPHA:399180 |
Nephronophthisis-Like Nephropathy 2 |
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Polydipsia |
OMIM:619468 |
Bardet-Biedl Syndrome 17 |
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Polydipsia, Poor coordination, Obesity |
OMIM:615994 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Athetosis, Polydipsia, Cerebral palsy, Spastic paraplegia |
ORPHA:369929 |
Apparent Mineralocorticoid Excess |
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Intrauterine growth retardation, Polydipsia, Failure to thrive, Short stature |
ORPHA:320 |
Teratoma, Pineal |
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Hemiparesis, Polydipsia |
OMIM:273120 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hydrocephalus, Addictive alcohol use |
ORPHA:90065 |
Acute Promyelocytic Leukemia |
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Addictive alcohol use, Anorexia, Weight loss |
ORPHA:520 |
Isolated Osteopoikilosis |
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Addictive alcohol use |
ORPHA:166119 |
Ochoa Syndrome |
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Polydipsia |
ORPHA:2704 |
Aprosencephaly And Cerebellar Dysgenesis |
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Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Familial Hyperaldosteronism Type I |
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Polydipsia |
ORPHA:403 |
Acute Lung Injury |
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Addictive alcohol use |
ORPHA:178320 |
Nephronophthisis 4 |
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Growth delay, Polydipsia |
OMIM:606966 |
Ethylene Glycol Poisoning |
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Addictive alcohol use, Slurred speech, Ataxia, Myoclonus |
ORPHA:31826 |
Familial Hyperaldosteronism Type Iii |
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Polydipsia |
ORPHA:251274 |
Renal Hypoplasia |
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Polydipsia, Small for gestational age |
ORPHA:93101 |
Herpes Simplex Virus Encephalitis |
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Addictive alcohol use |
ORPHA:1930 |
Staphylococcal Necrotizing Pneumonia |
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Addictive alcohol use |
ORPHA:36238 |
Distal Renal Tubular Acidosis |
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Short stature, Paralysis, Growth delay, Polydipsia, Failure to thrive |
ORPHA:18 |
Nephronophthisis 1 |
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Growth delay, Polydipsia |
OMIM:256100 |
Hyperparathyroidism, Neonatal Severe |
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Polydipsia, Failure to thrive |
OMIM:239200 |
Wolfram Syndrome |
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Polydipsia, Ataxia, Delayed puberty |
ORPHA:3463 |
Rabson-Mendenhall Syndrome |
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Severe postnatal growth retardation, Polydipsia, Short stature, Intrauterine growth retardation |
ORPHA:769 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Short stature, Impaired pain sensation, Aggressive behavior, Obesity, Self-injurious behavior, Co... |
ORPHA:293987 |
Nephronophthisis 11 |
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Growth delay, Polydipsia |
OMIM:613550 |
Hyperaldosteronism, Familial, Type Iii |
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Polydipsia |
OMIM:613677 |
Oligomeganephronia |
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Polydipsia, Small for gestational age |
ORPHA:2260 |
Infantile Nephropathic Cystinosis |
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Growth delay, Polydipsia, Failure to thrive |
ORPHA:411629 |
Pituitary Dermoid And Epidermoid Cysts |
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Polydipsia, Abnormal central motor function |
ORPHA:91351 |
Gitelman Syndrome |
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Salt craving, Paralysis, Paresthesia, Delayed puberty, Polydipsia, Failure to thrive |
ORPHA:358 |
Toxic Epidermal Necrolysis |
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Polydipsia, Dysphagia, Weight loss |
ORPHA:537 |
Primary Unilateral Adrenal Hyperplasia |
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Polydipsia |
ORPHA:231580 |
Cystinosis, Nephropathic |
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Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Dysphagia, Weight loss, G... |
OMIM:219800 |
Proximal Renal Tubular Acidosis |
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Mild postnatal growth retardation, Short stature, Growth delay, Polydipsia, Failure to thrive |
ORPHA:47159 |
Bartter Syndrome, Type 2, Antenatal |
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Small for gestational age, Short stature, Paresthesia, Polydipsia, Failure to thrive |
OMIM:241200 |
Senior-Boichis Syndrome |
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Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
Senior-Loken Syndrome 3 |
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Polydipsia |
OMIM:606995 |
Hypomagnesemia 3, Renal |
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Polydipsia, Failure to thrive |
OMIM:248250 |
Panhypophysitis |
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Polydipsia |
ORPHA:95513 |
Cirrhotic Cardiomyopathy |
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Addictive alcohol use |
ORPHA:57777 |
Juvenile Nephropathic Cystinosis |
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Growth delay, Polydipsia, Failure to thrive |
ORPHA:411634 |
Nephronophthisis 3 |
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Polydipsia |
OMIM:604387 |
Porphyria Cutanea Tarda |
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Addictive alcohol use |
ORPHA:101330 |
Parathyroid Carcinoma |
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Polydipsia, Dysphagia, Weight loss |
ORPHA:143 |
Helix Syndrome |
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Polydipsia |
OMIM:617671 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Polydipsia, Failure to thrive |
OMIM:602522 |
Senior-Loken Syndrome 1 |
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Polydipsia |
OMIM:266900 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Polydipsia, Dysphagia |
ORPHA:99880 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Polydipsia |
ORPHA:93111 |
Autosomal Recessive Polycystic Kidney Disease |
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Growth delay, Polydipsia |
ORPHA:731 |