Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Neurofibrillary tangles, Limb ataxia, Gait at... |
OMIM:137440 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Dysmetria, Gait ataxia, Brady... |
OMIM:610217 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Rosenthal fibers, Spasticity, Abno... |
ORPHA:363717 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Microcephaly, Impaired distal vibrati... |
OMIM:619742 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait |
OMIM:605388 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cerebellar agenesis |
ORPHA:1397 |
Leukoencephalopathy With Calcifications And Cysts |
|
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl... |
ORPHA:542310 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Premature gray... |
ORPHA:33445 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
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, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Megalencephaly, Diffuse white matter abnormali... |
OMIM:613925 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... |
OMIM:600143 |
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, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cafe-au-lait... |
OMIM:616291 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Gait disturbance, Myoclonus, Abnorm... |
OMIM:607822 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Corpus callosum atrophy, Retinal pigment epith... |
OMIM:619389 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Microcephaly, Babinski sign, Limb ataxia, Gait... |
OMIM:614322 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Ataxia, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:613402 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Temporal cortical ... |
ORPHA:100070 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Synophrys, Unsteady g... |
OMIM:616127 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Neurofibrillary tangles, Abnormal pyramidal sig... |
OMIM:616840 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor |
OMIM:608029 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration |
OMIM:610951 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Neurofibrillary tangles, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia... |
ORPHA:1020 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Senil... |
OMIM:608907 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Athetosis, Spasticity, Hypopigmentation of the skin, Dandy-Walker malformation |
OMIM:257800 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Ataxia, Parkinsonism, Tremor, Babinsk... |
OMIM:614298 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... |
OMIM:610357 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Cerebra... |
ORPHA:101110 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, H... |
OMIM:604326 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Leukoencep... |
OMIM:618387 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... |
OMIM:618088 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Rigidity, Chorea, G... |
ORPHA:248111 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Synophrys, Unsteady gait, Slurred speech, Babinski sign, Dysmetria,... |
ORPHA:453521 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus |
OMIM:125370 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age... |
OMIM:615771 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Progressive leukoencephalopathy, Ataxia, Babinski sign, Hand tremor, Leukoenc... |
OMIM:615889 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Leukoencephalopathy, Secondary microcep... |
OMIM:617954 |
Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Ataxia, Microcephaly, Athetosis, Abnormal cerebral white matter morphology, H... |
OMIM:614559 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes, Senile plaques |
OMIM:605055 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Hypoplasia of the corpus callosum, Spasticity, Fai... |
OMIM:616494 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... |
OMIM:607565 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, Neurofibrillary tangles, Gait ataxia, Cataplexy, Spasticity, Neuronal loss in central ner... |
OMIM:257220 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... |
OMIM:612319 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Abnormal cer... |
OMIM:614877 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles, Senile plaques |
DECIPHER:48 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Dysesthesia, Head titubation, Abnormal pyramidal sign, Hyperintensity... |
ORPHA:527497 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... |
ORPHA:98 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Neurofibrillary tangles, Neuronal loss in central nervous system, Apraxia, Lewy bod... |
OMIM:607485 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Cerebra... |
OMIM:607250 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104300 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104310 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... |
ORPHA:98759 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, C... |
OMIM:607136 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Neuronal loss in basal ganglia, Parkinsonism, Akinesia, Tremor, Rigidity, Neurofi... |
OMIM:601104 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy, Spasticity, Intention tremor |
OMIM:117300 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... |
OMIM:117360 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes, Parkinsonism |
OMIM:606688 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Neuronal loss in basal ganglia, Postural tremor, Parkinsonism, Akinesia, Rigidity... |
OMIM:609454 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Neurofibrillary tangles, Parkinsonism with favorable response t... |
ORPHA:199351 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Babin... |
OMIM:159550 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... |
OMIM:617145 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Leukoencephalopathy, Loss of ... |
OMIM:611390 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Cerebral calcification, Microcephaly, P... |
ORPHA:3322 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy, Senile plaques, Apraxia |
OMIM:606889 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... |
OMIM:612020 |
Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus callosum, Low... |
OMIM:616819 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy |
OMIM:619405 |
Niemann-Pick Disease, Type C2 |
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Cataplexy, Spasticity, Neurofibrillary tangles, Ataxia |
OMIM:607625 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
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Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Spinocerebellar Ataxia 15 |
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Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Primary Progressive Freezing Gait |
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Lewy bodies, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait... |
ORPHA:75567 |
Piebald Trait With Neurologic Defects |
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White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Waardenburg Syndrome Type 2 |
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Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Idiopathic Camptocormia |
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Amyotrophic lateral sclerosis, Parkinsonism, Cerebral atrophy, Abnormal basal ganglia morphology,... |
ORPHA:1320 |
Oculocutaneous Albinism Type 3 |
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White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Spinocerebellar Ataxia 6 |
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Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
Caribbean Parkinsonism |
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Weakness due to upper motor neuron dysfunction, Parkinsonism, T2 hypointense basal ganglia, Rigid... |
ORPHA:97355 |
Albinism, Oculocutaneous, Type Ii |
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Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Waisman Syndrome |
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Resting tremor, Parkinsonism, Megalencephaly, Rigidity, Cogwheel rigidity, Bradykinesia, Shufflin... |
OMIM:311510 |
Albinism-Deafness Syndrome |
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Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
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Alopecia, Ataxia, Microcephaly, Abnormality of skin pigmentation, Nail dystrophy, Cerebellar hypo... |
OMIM:616353 |
Woolly Hair Nevus |
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Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Ataxia-Telangiectasia-Like Disorder 1 |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Spinocerebellar Ataxia 32 |
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Cerebellar atrophy, Ataxia |
OMIM:613909 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Waddling gait, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Ubiquitin-positiv... |
ORPHA:52430 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
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Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Piebald Trait-Neurologic Defects Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Parkinson Disease 1, Autosomal Dominant |
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Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Ataxia-Oculomotor Apraxia 4 |
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Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra... |
OMIM:616267 |
Cardiomyopathy, Dilated, 1I |
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Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Parkinson Disease, Late-Onset |
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Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Neuronal ... |
OMIM:168600 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Ataxia-Oculomotor Apraxia 3 |
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Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls |
OMIM:615217 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Lewy bodies |
OMIM:619133 |
Parkinson Disease 8, Autosomal Dominant |
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Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with... |
OMIM:607060 |
Waardenburg Syndrome, Type 4A |
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White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Spinocerebellar Ataxia Type 8 |
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Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Epilepsy, Progressive Myoclonic, 10 |
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Spastic ataxia, Ataxia, Spastic tetraplegia, Lafora bodies, Progressive cerebellar ataxia, Myoclo... |
OMIM:616640 |
Piebald Trait |
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Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Hereditary Late-Onset Parkinson Disease |
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Resting tremor, Lewy bodies, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffli... |
ORPHA:411602 |
Parkinsonian-Pyramidal Syndrome |
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Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki... |
ORPHA:171695 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
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Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Lewy bodies |
OMIM:614251 |
Parkinson Disease 21 |
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Parkinsonism, Tremor, Rigidity, Bradykinesia, Lewy bodies |
OMIM:616361 |
Gillespie Syndrome |
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Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia, Thin corpus c... |
OMIM:206700 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Broad-based gait, Hypopigmentation of hair, Ataxia, Cessation of head growth, Obesity, Hypopigmen... |
ORPHA:411515 |
Waardenburg-Shah Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Parkinson Disease 4, Autosomal Dominant |
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Lewy bodies, Parkinsonism, Weight loss |
OMIM:605543 |
Ataxia With Vitamin E Deficiency |
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Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hypopigmentation of hair, Ataxia, Inability to walk, Chorea, Abnormal cerebral morphology, Focal ... |
ORPHA:70472 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Cerebellar atrophy, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Obesity And Hypopigmentation |
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Red hair |
OMIM:620195 |
Vogt-Koyanagi-Harada Disease |
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Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Piebaldism |
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Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Early-Onset Lafora Body Disease |
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Ataxia, Myoclonus, Spastic tetraparesis, Lafora bodies |
ORPHA:324290 |
Oculocutaneous Albinism Type 4 |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Ataxia-Telangiectasia |
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Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hair, Gait disturbance, Multiple c... |
ORPHA:100 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Dementia, Lewy Body |
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Lewy bodies, Parkinsonism |
OMIM:127750 |
Waardenburg Syndrome Type 1 |
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Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Obesity Due To Prohormone Convertase I Deficiency |
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Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity |
ORPHA:71526 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of hair, Broad-based gait, Ataxia, Cessation of head growth, Obesity, Secondary ... |
ORPHA:411511 |
Hermansky-Pudlak Syndrome 3 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Oculocutaneous Albinism Type 2 |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Cerebral calcification, Microcephaly, Tremor, Paraplegia, Hypertonia, H... |
ORPHA:79254 |
Lafora Disease |
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Ataxia, Inability to walk, Lafora bodies, Gait disturbance, Myoclonus, Brain atrophy, Erratic myo... |
ORPHA:501 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Cessation of head growth, Obesity, Se... |
ORPHA:98794 |
Oculocutaneous Albinism Type 1B |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Acquired Hypertrichosis Lanuginosa |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Ataxia, Microcephaly, Ocular albinism, Abnormal pyramidal sign, Spastic... |
ORPHA:2719 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Short Stature-Micrognathia Syndrome |
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Cerebellar atrophy, Ataxia, Microcephaly, Gait ataxia, Decreased body weight, Failure to thrive |
OMIM:617164 |
Ermine Phenotype |
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Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Oculocutaneous Albinism Type 1A |
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Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Myoclonic Epilepsy Of Lafora |
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Lafora bodies, Gait disturbance, Myoclonus, Apraxia |
OMIM:254780 |
Albinism, Oculocutaneous, Type Ia |
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Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Griscelli Syndrome Type 2 |
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Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Waardenburg Syndrome, Type 4C |
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White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Chédiak-Higashi Syndrome |
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Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Somatic sensor... |
ORPHA:167 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Broad-based gait, Cessation of head growth, Secondary microcephaly, Gai... |
ORPHA:98795 |
Squalene Synthase Deficiency |
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Polymicrogyria, Failure to thrive in infancy, Abnormality of hair pigmentation, Hypoplasia of the... |
OMIM:618156 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Carney Complex, Type 1 |
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Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Chediak-Higashi Syndrome |
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Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Ocular albinism, Giant melanosomes in... |
OMIM:214500 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Muenke Syndrome |
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Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Vici Syndrome |
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Hypopigmentation of hair, Cerebellar vermis hypoplasia, Schizencephaly, Albinism, Microcephaly, O... |
OMIM:242840 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Small for gestational age, Impaired temperature sensation, Perisylvian ... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Small for gestational age, Impaired temperature sensation, Perisylvian ... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of hair, Small for gestational age, Impaired temperature sensation, Perisylvian ... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of hair, Small for gestational age, Impaired temperature sensation, Perisylvian ... |
ORPHA:177901 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal pyramidal sign, Hypopigme... |
ORPHA:163746 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair, Obesity |
OMIM:609734 |
Brittle Cornea Syndrome |
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Gait disturbance, Abnormality of hair pigmentation |
ORPHA:90354 |
Syndromic Diarrhea |
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Hypopigmentation of hair, Brittle hair, Small for gestational age, Uncombable hair, Woolly hair, ... |
ORPHA:84064 |