Gene: Vac14 MGI:2157980

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

Vac14 homolog (S. cerevisiae)

Synonyms:

D8Wsu151e, ingls, Trx, Tax1bp2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Vac14 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Vac14 (2 diseases)
Human diseases predicted to be associated with Vac14 (1140 diseases)

The table below shows human diseases associated to Vac14 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Striatonigral Degeneration, Childhood-Onset		Ankle clonus, Loss of ambulation, Dystonia, Craniofacial dystonia, Steppage gait, Hypertonia, Uns...	OMIM:617054
Yunis-Varon Syndrome		Aplasia/Hypoplasia of the nails, Sparse eyebrow, Sparse eyelashes, Hydrocephalus, Neuronal loss i...	ORPHA:3472

The table below shows human diseases predicted to be associated to Vac14 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai...	OMIM:213200
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Tetraparesis, Astrocytosis, Cogwheel rigidity, Myoclonus, Gait ataxia, Rigidity, Loss...	ORPHA:225154
Sporadic Creutzfeldt-Jakob Disease	Increased CSF protein concentration, Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnor...	ORPHA:204
Huntington Disease	Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst...	OMIM:143100
Spinocerebellar Ataxia 17	Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Myoclonus, Dysm...	OMIM:607136
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Ventriculomegaly, Tremor, Gait disturbance, Normal pressure hydrocephalus, Kinetic tremor	OMIM:611808
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Rigidity, Parkinso...	OMIM:221820
Inherited Creutzfeldt-Jakob Disease	Increased CSF protein concentration, Global brain atrophy, Central nervous system degeneration, P...	ORPHA:282166
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a...	OMIM:618369
Progressive Non-Fluent Aphasia	Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormality of extrapyr...	ORPHA:100070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Cerebral cortical atrophy, Astrocytosis, Myoclonus, Rigidity, Babinski sign, Gait disturbance, Ne...	OMIM:600795
Pineocytoma	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251912
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Gait disturbance, Te...	OMIM:604484
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ...	OMIM:616053
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor	ORPHA:217012
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis	OMIM:300857
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal motor funct...	OMIM:604218
Developmental And Epileptic Encephalopathy 14	Cerebral cortical atrophy, Spasticity, Clonus, Gliosis, Tetraplegia, Neuronal loss in central ner...	OMIM:614959
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor	ORPHA:423296
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, ...	OMIM:615362
Huntington Disease-Like 1	Cerebral cortical atrophy, Involuntary movements, Ventriculomegaly, Cerebellar atrophy, Incoordin...	ORPHA:157941
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis	ORPHA:2807
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Hemiplegia/hemiparesis, Cerebral palsy, Ataxia	ORPHA:99966
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft, Agenesis o...	OMIM:617542
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe...	OMIM:615957
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo...	ORPHA:363710
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atrophy, Hydroceph...	ORPHA:2703
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Ventriculomegaly, Decreased thalamic volume, Hypoplasia of the pons, Cardiomyopath...	ORPHA:370959
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal thalamus morphology, Hypoplasia of the p...	ORPHA:467166
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor, Premature graying of hair	OMIM:190200
Machado-Joseph Disease	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc...	OMIM:109150
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Apraxia, Parkinsonism, Paraparesis...	OMIM:105550
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Focal Cortical Dysplasia, Type Ii	Astrocytosis, Hemiparesis	OMIM:607341
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus, Ataxia	OMIM:618709
Joubert Syndrome 13	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Spastic Paraplegia 50, Autosomal Recessive	Ventriculomegaly, Cerebellar atrophy, Cerebral palsy, Babinski sign, Limb hypertonia, Gliosis, At...	OMIM:612936
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Neurodegeneration, Bab...	OMIM:615889
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria...	OMIM:616291
Frontotemporal Dementia With Motor Neuron Disease	Global brain atrophy, Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function,...	ORPHA:275872
Neuroectodermal Melanolysosomal Disease	Cerebral cortical atrophy, Spasticity, Hypopigmentation of the skin, Premature graying of hair, G...	ORPHA:33445
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Cerebellar hypoplasia, Decreased thalamic volume, Hypoplasia of the brainstem	OMIM:619072
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Fasciculations, Astrocytosis, Abnormality of extrapyramidal moto...	ORPHA:275864
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Limb dysmetria, Action tremo...	ORPHA:98762
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab...	ORPHA:101110
Dandy-Walker Syndrome	Truncal ataxia, Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Striatal Degeneration, Autosomal Dominant 1	Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi...	OMIM:609161
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Sparse body hair, Melanocytic nevus, Hydrocephalus, Abnormal eyelash morpho...	ORPHA:1008
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume, Hypoplasia of the brainstem	OMIM:613668
L-2-Hydroxyglutaric Aciduria	Global brain atrophy, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Abnormal ...	OMIM:236792
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Ab...	OMIM:607317
Spinocerebellar Ataxia 12	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto...	OMIM:604326
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,...	OMIM:611302
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Cach Syndrome	Optic atrophy, Cerebellar atrophy, Lateral ventricle dilatation, Cerebellar vermis atrophy, T2 hy...	ORPHA:135
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Myoclonus, Babinski sign, Apraxia, Ga...	OMIM:221770
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Hand tremor, Impaired pain sensation, ...	ORPHA:99947
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr...	ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia,...	OMIM:615768
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Neuronal ...	OMIM:615924
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Supranuclear Palsy, Progressive, 1	Falls, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Astrocytosis, Tremor, Rigidity, L...	OMIM:601104
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Spasticity, Hypopigmentation of the skin, Athetosis, Dandy-Walker malformation	OMIM:257800
Pontocerebellar Hypoplasia, Type 4	Spasticity, Myoclonus, Gliosis, Hypertonia	OMIM:225753
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616187
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel ...	OMIM:600116
Dystonia 23	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Limb dystonia, Myoclonus, Axial dysto...	OMIM:614860
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Leigh Syndrome, Nuclear	Pigmentary retinopathy, Spasticity, Hypertrichosis, Increased CSF lactate, Gliosis, Ataxia, Dystonia	OMIM:256000
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem...	ORPHA:98763
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Difficulty walking, Ventriculomegaly, Astrocytosis, Inability to walk	OMIM:611087
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Gómez-López-Hernández Syndrome	Toenail dysplasia, Impaired pain sensation, Alopecia of scalp, Hydrocephalus, Ataxia	ORPHA:1532
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Cerebral atrophy, Inability to walk, Abnormal CSF...	ORPHA:79243
Ceroid Lipofuscinosis, Neuronal, 7	Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia	OMIM:610951
Hemimegalencephaly	Ventriculomegaly, Myoclonus, Gliosis, Hemiparesis	ORPHA:99802
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro...	ORPHA:464440
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Gliosis, Neuron...	OMIM:256600
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Global brain atrophy, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmet...	OMIM:610185
Alexander Disease	Increased CSF protein concentration, Spasticity, Dysmetria, Babinski sign, Hydrocephalus, Ataxia,...	OMIM:203450
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:617127
Chudley-Mccullough Syndrome	Ventriculomegaly, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Hydroc...	OMIM:604213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady...	OMIM:302500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Small nail, Tremor, Hydrocephalus, Spastic tetraparesis	OMIM:619470
Developmental And Epileptic Encephalopathy 97	Inability to walk, Ventriculomegaly, Tremor	OMIM:619561
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella...	ORPHA:423275
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Increased CSF protein concentration, Gliosis, Tetraplegia, Hypertonia, Spastic tetraplegia	OMIM:608033
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Falls, Resting tremo...	OMIM:617225
Congenital Neuronal Ceroid Lipofuscinosis	Spasticity, Ventriculomegaly, Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis	ORPHA:168486
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis, Hemiparesis	OMIM:613002
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Distal sensory impairment, Tremor, Fasciculations	OMIM:615048
Alexander Disease Type I	Cerebellar atrophy, Hydrocephalus, Abnormal thalamic MRI signal intensity	ORPHA:363717
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Hippocampal sclerosis, Myoclonus, Tremor	OMIM:615400
Joubert Syndrome 30	Ventriculomegaly, Cerebellar atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Super...	OMIM:617622
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Ce...	ORPHA:306669
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Abnormal thalamus morphology, Hypopla...	ORPHA:300570
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Ventriculomegaly, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis	OMIM:300957
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Inability to walk, Dilated fourth ventricle, Gait ataxia, Dysmetria, Tremor, ...	OMIM:614831
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Cerebellar calcifications, Thalamic calcification	OMIM:618824
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Ceroid Lipofuscinosis, Neuronal, 5	Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My...	OMIM:256731
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dysmetria, Ankle c...	OMIM:612319
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Cerebellar atrophy, Thick eyebrow, Gait ataxia, Limb ataxia, Dysmetria, Dystoni...	OMIM:616127
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dy...	OMIM:168601
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N...	OMIM:617672
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Degeneration of the ...	OMIM:600363
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Lateral ventricle dilatation, Cerebral palsy, Cerebral atrophy, Myoclonus, Limb dysto...	OMIM:619847
Basal Ganglia Calcification, Idiopathic, 5	Cerebellar calcifications, Thalamic calcification	OMIM:615483
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt...	ORPHA:1170
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Masa Syndrome	Spastic paraplegia, Shuffling gait, Ventriculomegaly, Paraplegia, Lower limb spasticity, Hydrocep...	OMIM:303350
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a...	ORPHA:79263
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Abnormal hypothalamus morphology, Abnormal pituitary gland morpholo...	ORPHA:314621
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Increased CSF lactate, Brain atrophy, Lim...	OMIM:604377
Polymicrogyria With Optic Nerve Hypoplasia	Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephal...	ORPHA:250972
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr...	OMIM:617145
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin...	ORPHA:521406
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int...	ORPHA:314978
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Spastic Paraplegia 79B, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Tetrapare...	OMIM:615491
Central Neurocytoma	Pain insensitivity, Abnormal lateral ventricle morphology, Paresthesia, Babinski sign, Hydrocepha...	ORPHA:73256
Combined Oxidative Phosphorylation Deficiency 14	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Increased CSF ...	OMIM:614946
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ...	ORPHA:284324
Microcephaly 10, Primary, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebral atrophy, Gliosis, Hypertonia	OMIM:615095
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Lissencephaly 4	Cerebellar hypoplasia, Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia	OMIM:618387
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebral cortical atrophy, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Cerebral atro...	OMIM:615157
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R...	ORPHA:306692
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Rhombencephalosynapsis, Hypoplasia of the pons, Anterior hypopituit...	ORPHA:280195
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Neuronal Intranuclear Inclusion Disease	Increased CSF protein concentration, Ventriculomegaly, Somatic sensory dysfunction, Tremor, Rigid...	OMIM:603472
Tay-Sachs Disease	Ventriculomegaly, Global brain atrophy, Cerebellar atrophy, Fasciculations, Incoordination, Inabi...	ORPHA:845
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticit...	OMIM:617916
Glut1 Deficiency Syndrome 2	Cerebral atrophy, Hypoglycorrhachia, Increased CSF lactate, Tremor, Ataxia, Dystonia, Choreoathet...	OMIM:612126
Autosomal Spastic Paraplegia Type 58	Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C...	ORPHA:397946
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Cerebellar dentate nucleus calcification, Thalamic calcification	OMIM:618317
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ventriculomegaly, Generalized dystonia, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia,...	OMIM:618321
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ...	OMIM:614963
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms, Hypertonia, Gliosis, Neuronal...	OMIM:614498
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab...	ORPHA:216873
Spinocerebellar Ataxia Type 17	Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson...	ORPHA:98759
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Spasticity, Cerebral atrophy, Abnormality of retinal pigmentation, Babinski sign, Abnormal pyrami...	ORPHA:397951
Joubert Syndrome 3	Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elo...	OMIM:608629
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat...	ORPHA:363654
2,4-Dienoyl-Coa Reductase Deficiency	Spasticity, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Incoordination, Increased CSF...	OMIM:616034
Caribbean Parkinsonism	Cerebral cortical atrophy, Ventriculomegaly, Myoclonus, Action tremor, Rigidity, Dystonia, Progre...	ORPHA:97355
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, ...	OMIM:618093
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Spasticity, Pseudobulbar paralysis, Babinski sign, Corpus callosum atrophy, Gliosis, Ataxia	OMIM:169500
Papillary Tumor Of The Pineal Region	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251915
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lower limb spasticity, Gliosis	OMIM:615119
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem morphology, Abnormal thalamus morphology, Abnormal brainstem MRI signal intensity	ORPHA:88619
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Diffuse cerebral atrophy, ...	ORPHA:314632
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Increased CSF lactate, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, ...	ORPHA:139485
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion, Decreased motor nerve conduction velocity, Azoospermia	OMIM:613724
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Tongue fasciculations, Sparse eyebrow, Upper limb spasticity, Ventriculomegaly, Cerebellar atroph...	OMIM:617193
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Fusion of the left and right thalami, ...	OMIM:619306
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Focal T2 hyperintense thalamic lesion	OMIM:619057
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ...	OMIM:300423
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:454887
Developmental And Epileptic Encephalopathy 71	Gliosis	OMIM:618328
Intellectual Developmental Disorder, X-Linked 104	Cerebral cortical atrophy, Spasticity, Frontal upsweep of hair, Tremor, Ataxia	OMIM:300983
Hsd10 Disease	Ventriculomegaly, Spastic paraparesis, Frontotemporal cerebral atrophy, Myoclonus, Tremor, Rigidi...	ORPHA:391417
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Hypothalamic atrophy, Lateral ventricle dilatation, Orthost...	ORPHA:2822
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d...	OMIM:213600
Progressive Supranuclear Palsy	Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Dystonia, Gliosis, Neuronal lo...	ORPHA:683
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to...	ORPHA:391411
Pick Disease Of Brain	Gliosis, Neuronal loss in central nervous system	OMIM:172700
Rhombencephalosynapsis	Ventriculomegaly, Fusion of the left and right thalami, Fusion of the cerebellar hemispheres, Abn...	ORPHA:59315
Pontocerebellar Hypoplasia, Type 2A	Cerebral cortical atrophy, Chorea, Opisthotonus, Gliosis, Dystonia, Extrapyramidal dyskinesia	OMIM:277470
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At...	OMIM:619028
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Myocardial necrosis, Abnormal medulla oblongata morphology, Abnorma...	ORPHA:68
Pelizaeus-Merzbacher Disease, Connatal Form	Difficulty walking, Inability to walk, Dystonic gait, Lower limb spasticity, Gliosis, Ataxia, Tit...	ORPHA:280210
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Abnormal brainstem MRI signal intensit...	ORPHA:444013
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at...	OMIM:616719
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Progressive cerebellar ataxia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Increase...	ORPHA:137898
Developmental And Epileptic Encephalopathy 36	Abnormal pyramidal sign, Hydrocephalus, Cerebral atrophy, Abnormality of extrapyramidal motor fun...	OMIM:300884
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance	OMIM:618090
Leukoencephalopathy With Vanishing White Matter 1	Spasticity, Gait disturbance, Gliosis, Unsteady gait	OMIM:603896
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:619111
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal heart morphology, Optic disc pallor, Focal T2 hyperintense thalamic lesion, Cerebellar a...	ORPHA:79264
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto...	OMIM:606159
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Spinocerebellar Ataxia 50	Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Action tremor, Pos...	OMIM:620158
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Spasticity, Hypopigmentation of the skin, Melanin pigment aggregation in hair s...	OMIM:256710
Cerebrooculofacioskeletal Syndrome 1	Ventriculomegaly, Cerebellar atrophy, Neurodegeneration, Hirsutism, Diffuse cerebral atrophy, Gli...	OMIM:214150
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Neurodegeneration With Brain Iron Accumulation 6	Spastic paraparesis, Tip-toe gait, Neurodegeneration, Rigidity, Dystonia, Gait disturbance, Oroma...	OMIM:615643
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus, Optic disc pallor, Cerebellar atrophy	ORPHA:1947
Spinocerebellar Ataxia 7	Pigmentary retinopathy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal moto...	OMIM:164500
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Abnormal mitochondrial shape, Cerebellar atrophy, Decreased nerve conduction veloc...	ORPHA:485421
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Atrioventricular canal defect, Dextrocardia, Agenesis of corpus callosum	OMIM:618929
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston...	ORPHA:71517
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston...	OMIM:617284
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Spasticity, Cerebral atrophy, Babinski sign, Abnormal pyramidal sign, Hydrocephalus	OMIM:615599
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Difficulty walking, Astrocytosis, Action tremor, Rigidity, Dystonia, Gait di...	ORPHA:309854
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Pontocerebellar Hypoplasia, Type 12	Cerebellar hypoplasia, Lateral ventricle dilatation, Hypoplasia of the brainstem	OMIM:618266
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li...	OMIM:183090
Hydrolethalus Syndrome 2	Ventriculomegaly, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:614120
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Facial diplegia, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI si...	ORPHA:254930
Joubert Syndrome 18	Agenesis of cerebellar vermis, Ventricular septal defect, Molar tooth sign on MRI, Agenesis of co...	OMIM:614815
Edinburgh Malformation Syndrome	Frontal hirsutism, Hydrocephalus	OMIM:129850
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ...	ORPHA:98764
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Increased CSF homovanillic acid concentration, Chorea, Cogwheel rigidity, Limb...	OMIM:613135
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia	ORPHA:599373
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Abnormal thalamus morphology	ORPHA:557003
Joubert Syndrome 25	Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:616781
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Lateral ventricle dilatation, Apraxia, Parkinsonism, Gliosis, Neuronal...	OMIM:607485
Lissencephaly, X-Linked, 2	Ventriculomegaly, Spasticity, Gliosis	OMIM:300215
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology, Ventriculomegaly, Abnormal cerebellum morphology, Agenesis of corp...	ORPHA:255182
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist...	ORPHA:276435
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ...	OMIM:208920
Fried Syndrome	Gait disturbance, Hydrocephalus, Spastic diplegia	ORPHA:85335
Parkinsonism-Dystonia 3, Childhood-Onset	Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ...	OMIM:619738
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Spasticity, Cerebellar atrophy, Cerebral atrophy, CSF lymphocytic pleiocytosis,...	OMIM:610333
Nasu-Hakola Disease	Cerebral cortical atrophy, Ventriculomegaly, Spasticity, Chorea, Oculomotor apraxia, Hydrocephalus	ORPHA:2770
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory...	OMIM:302800
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Inability to walk, Hydrocephalus, Hypertonia, Ataxia, Spastic tetraplegia	OMIM:618174
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Dystonia, Spastic tetraplegia, Hypertonia	OMIM:619301
Adducted Thumbs Syndrome	Myelin-dependent gliosis, Hypertrichosis	OMIM:201550
Spinocerebellar Ataxia 42	Cerebellar atrophy, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spast...	OMIM:616795
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Increased CSF protein concentration, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Cerebral...	OMIM:203700
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Combined Oxidative Phosphorylation Deficiency 24	Spasticity, Cerebellar atrophy, Increased CSF lactate, Neurodegeneration, Gliosis, Neuronal loss ...	OMIM:616239
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Brain atrophy, Dandy-Walker ...	OMIM:617967
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Upper limb spasticity	ORPHA:457240
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Increased CSF lactate, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia	OMIM:612016
Craniopharyngioma	Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothala...	ORPHA:54595
Behr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance...	OMIM:210000
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Focal T2 hyperintense thalamic lesion	ORPHA:254881
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Dystonia, Spastic tetraplegia, Hypertonia	OMIM:619302
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Slc35A2-Cdg	Abnormal midbrain morphology, Cerebellar atrophy, Lateral ventricle dilatation, Abnormal heart mo...	ORPHA:356961
Dystonia 30	Hypothalamic hamartoma	OMIM:619291
X-Linked Charcot-Marie-Tooth Disease Type 1	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101075
Joubert Syndrome 40	Molar tooth sign on MRI, Optic nerve hypoplasia	OMIM:619582
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell...	OMIM:609583
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Cerebral atrophy, Tremor, Ataxia	OMIM:618637
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinsk...	OMIM:616505
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Japanese Encephalitis	Abnormal midbrain morphology, Decreased motor nerve conduction velocity, Abnormal thalamus morpho...	ORPHA:79139
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia	OMIM:614018
3P25.3 Microdeletion Syndrome	Abnormal thalamus morphology, Ventricular septal defect, Atrial septal defect, Patent ductus arte...	ORPHA:435638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cere...	OMIM:613153
Supranuclear Palsy, Progressive, 2	Falls, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Axial dystonia, Rigidity, Parkinso...	OMIM:609454
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Spasticity, Lateral ventricle dilatation	OMIM:600348
Microphthalmia-Brain Atrophy Syndrome	Cerebellar vermis atrophy, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degene...	ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Cardiomyopathy, Hypoplasia of the brainstem, Cerebellar dysplasia, ...	OMIM:613155
Hyperphenylalaninemia, Bh4-Deficient, A	Decreased CSF 5-hydroxyindolacetic acid concentration, Tremor, Rigidity, Dystonia, Decreased CSF ...	OMIM:261640
Leigh Syndrome	Optic atrophy, Cerebellar atrophy, Hypertrophic cardiomyopathy, Olivopontocerebellar atrophy, Age...	ORPHA:506
Joubert Syndrome 31	Ventriculomegaly, Molar tooth sign on MRI	OMIM:617761
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Cerebellar atrophy	ORPHA:488635
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi...	OMIM:609270
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation	OMIM:619405
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia	OMIM:617810
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia...	OMIM:618049
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ...	OMIM:617751
Joubert Syndrome 28	Optic disc pallor, Molar tooth sign on MRI	OMIM:617121
1Q21.1 Microduplication Syndrome	Hydrocephalus, Hypertonia	ORPHA:250994
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Lateral ventricle dilatation, Hypoplasia of the pons, Abnormal brainstem morp...	ORPHA:300573
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia	OMIM:618587
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
X-Linked Charcot-Marie-Tooth Disease Type 4	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101078
Leukodystrophy, Hypomyelinating, 11	Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616494
Mannosidosis, Alpha B, Lysosomal	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Hypertrichosis, Thick eyebrow, Gait at...	OMIM:248500
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Methylmalonic Acidemia With Homocystinuria	Gait disturbance, Hydrocephalus	ORPHA:26
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainst...	ORPHA:101070
Neuroferritinopathy	T2 hypointense thalamus, Abnormal dentate nucleus morphology, Abnormal thalamic MRI signal intens...	ORPHA:157846
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Diffuse cerebral atrophy, Head titubation, Gliosis, Vestibular areflexia, Spastic tetraplegia	ORPHA:3240
Joubert Syndrome 32	Hypertrophic cardiomyopathy, Abnormal cerebellum morphology, Molar tooth sign on MRI	OMIM:617757
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Phenylketonuria	Hypopigmentation of the skin, Lower limb spasticity, Tremor, Ataxia	ORPHA:716
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Gait ataxia, Trem...	ORPHA:363400
Lopes-Maciel-Rodan Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor...	OMIM:617435
Hereditary Late-Onset Parkinson Disease	Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Parkinso...	ORPHA:411602
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Meckel Syndrome 13	Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:617562
Congenital Hydrocephalus	Optic atrophy, Ventriculomegaly, Abnormal heart morphology, Colpocephaly, Hydrocephalus	ORPHA:2185
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Global brain atrophy, Generalized dystonia, Inability to wa...	OMIM:312080
Mitochondrial Complex I Deficiency, Nuclear Type 2	Ventriculomegaly, Falls, Difficulty walking, Ankle clonus, Gliosis, Dystonia	OMIM:618222
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle, Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinso...	OMIM:619725
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Tremor, Diffuse cer...	ORPHA:330050
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Spasticity, Hypopigmented skin patches, White hair, Prem...	ORPHA:381
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
New-Onset Refractory Status Epilepticus	Cerebellar edema, Abnormal thalamic MRI signal intensity	ORPHA:363558
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Cerebral atrophy, Inability to walk, Myoclonus, Gait ataxia, Tremor, R...	OMIM:618877
Dystonia 12	Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait	OMIM:128235
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal heart morphology, Abnormal thalamus morphology, Ventricular septal defect	ORPHA:404440
Ravine Syndrome	Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin...	ORPHA:99852
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
Waardenburg Syndrome, Type 4A	Spastic paraparesis, Hypopigmented skin patches, Premature graying of hair, White forelock, Heter...	OMIM:277580
Pontocerebellar Hypoplasia, Type 7	Tongue fasciculations, Spasticity, Hypopigmentation of the skin, Spastic paraplegia, Ventriculome...	OMIM:614969
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun...	ORPHA:98773
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology, Optic atrophy	ORPHA:411493
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus callosum, Dandy-Walker m...	OMIM:618736
Molybdenum Cofactor Deficiency, Type B	Ventriculomegaly, Cerebral atrophy, Neonatal death, Diffuse cerebral atrophy, Opisthotonus, Glios...	OMIM:252160
Krabbe Disease	Increased CSF protein concentration, Neurodegeneration, Diffuse cerebral atrophy, Hydrocephalus, ...	OMIM:245200
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia	OMIM:278780
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R...	OMIM:300894
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia,...	OMIM:615181
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Intellectual Developmental Disorder, Autosomal Recessive 68	Broad eyebrow, Cerebellar atrophy, Hydrocephalus, Synophrys	OMIM:618302
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A...	OMIM:300623
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebral cortical atrophy, Spasticity, Ventriculomegaly, Cerebellar atrophy, Postural tremor, Myo...	OMIM:301072
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Dysmetria, Tremor, Lo...	OMIM:607694
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Cerebral atrophy, Episodic ataxia, Increased CSF lactate, Myoclonus, Tremor, Dy...	OMIM:312170
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Adult Krabbe Disease	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Delayed brainstem auditory e...	ORPHA:206448
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dystonia, Parkinsoni...	ORPHA:329284
Joubert Syndrome 16	Dandy-Walker malformation, Molar tooth sign on MRI	OMIM:614465
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Joubert Syndrome 6	Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Dila...	OMIM:610688
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor	OMIM:613608
Leukodystrophy, Hypomyelinating, 6	Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoath...	OMIM:612438
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Tremor, Premature graying of hair	ORPHA:66633
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsiness, Eyelid myoc...	ORPHA:2590
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,...	OMIM:606693
Hypermanganesemia With Dystonia 2	Spasticity, Cerebellar atrophy, Tip-toe gait, Generalized dystonia, Cerebral atrophy, Inability t...	OMIM:617013
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Cerebral atrophy, Abnormal astrocyte morphology, Tremor, Babins...	ORPHA:83629
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Diffuse cerebral atrop...	OMIM:617710
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Late-Infantile/Juvenile Krabbe Disease	Increased CSF protein concentration, Spastic paraparesis, Acroparesthesia, Difficulty walking, He...	ORPHA:206443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hypoplasi...	OMIM:613154
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramida...	ORPHA:96
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
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
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Loss of ambulation, Increased CSF interferon alpha, Dystonia, CSF pleocytosis	OMIM:615010
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Panhypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95513
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Joubert Syndrome 14	Optic atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Ventricular septal defe...	OMIM:614424
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Cerebellar atrophy, Difficulty walking, Myoclonus, Gait ataxia, Appendicular spasticity, ...	OMIM:620451
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Neurodegeneration, Gait ataxia, Cerebellar atrophy	ORPHA:438134
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Dysgenesis of the cerebe...	ORPHA:397715
4H Leukodystrophy	Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive ...	ORPHA:289494
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Pigmentary retinopathy, Ventriculomegaly, Decreased CSF 5-hydroxyindolacetic acid concentration, ...	ORPHA:404454
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Adenohypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95512
Joubert Syndrome 22	Agenesis of cerebellar vermis, Molar tooth sign on MRI	OMIM:615665
Pontocerebellar Hypoplasia, Type 1A	Cerebellar hypoplasia, Lateral ventricle dilatation, Hypoplasia of the ventral pons, Hypoplasia o...	OMIM:607596
Acute Disseminated Encephalomyelitis	Abnormal cerebellum morphology, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI si...	ORPHA:83597
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Aganglionic megacolon, Hydrocephalus, ...	ORPHA:220493
Primary Non-Essential Cutis Verticis Gyrata	Gliosis	ORPHA:357225
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
L1 Syndrome	Spasticity, Hemiplegia/hemiparesis, Gait disturbance, Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Progressive Multifocal Leukoencephalopathy	Somatic sensory dysfunction, Abnormal astrocyte morphology, Paresthesia, Gait ataxia, Hemiplegia/...	ORPHA:217260
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Hydrocephalus-Obesity-Hypogonadism Syndrome	Low posterior hairline, Absent facial hair, Sparse facial hair, Hydrocephalus	ORPHA:2183
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ventriculomegaly, Inability to walk, Tremor, Hypertonia, Ataxia	OMIM:619556
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor	OMIM:614307
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Aganglionic megacolon, Hydrocephalus, ...	ORPHA:220497
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia	ORPHA:99014
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C...	ORPHA:370022
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait	OMIM:614867
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia, Brain atrophy	OMIM:619092
Joubert Syndrome 9	Ventriculomegaly, Molar tooth sign on MRI	OMIM:612285
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Adrenoleukodystrophy	Spastic paraplegia, Alopecia, Incoordination, Neurodegeneration, Limb ataxia, Hyperpigmentation o...	OMIM:300100
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Frequent falls, Degeneration of ant...	OMIM:159950
Edinburgh Malformation Syndrome	Hirsutism, Low posterior hairline, Generalized hirsutism, Hydrocephalus, Hypertonia, Brushfield s...	ORPHA:1895
Meckel Syndrome, Type 4	Ventricular septal defect, Hydrocephalus, Molar tooth sign on MRI, Atrial septal defect, Agenesis...	OMIM:611134
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal cerebellar cortex morphology, Dilated cardiomyopathy, Abnormal thalamic MRI signal inten...	ORPHA:70595
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Spasticity, Hydrocephalus	OMIM:304100
Joubert Syndrome 2	Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar vermis, Optic disc coloboma, Hypop...	OMIM:608091
Dandy-Walker Malformation With Postaxial Polydactyly	Truncal ataxia, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Jaberi-Elahi Syndrome	Sparse eyebrow, Broad-based gait, Fine hair, Inability to walk, Cerebellar vermis atrophy, Gait a...	OMIM:617988
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere...	OMIM:608768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Autosomal Recessive Spastic Paraplegia Type 66	Cerebellar hypoplasia, Colpocephaly	ORPHA:401815
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Pseudobulbar paralysis, Tremor, Babins...	OMIM:616586
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Pontocerebellar atrophy, Oculomotor apraxia, Abnormal pyramidal sign, Ata...	OMIM:618060
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Spongiform Encephalopathy With Neuropsychiatric Features	Parkinsonism, Gliosis	OMIM:606688
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Substantia nigra gliosis, Dystoni...	OMIM:168600
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Spasticity, Hemiplegia/hemiparesis, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly	ORPHA:2182
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial ...	ORPHA:420492
Atypical Rett Syndrome	Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ...	ORPHA:3095
Joubert Syndrome 35	Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI	OMIM:618161
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Spasticity, Generalized dystonia, Inability to walk, Increased CSF lactate, Chorea, Ataxia, Hypop...	ORPHA:70472
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon...	ORPHA:99027
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Involuntary movements, Cerebral atrophy, Difficulty walking, Abnormality of coordinat...	ORPHA:442835
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor...	OMIM:612953
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Ventriculomegaly, Chorea, Pallidal degeneration, Limb dystonia, Communic...	ORPHA:25
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Opisthotonus, Hydrocephalus, Spina bifida, Ataxia	OMIM:207950
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, Abnormality of e...	OMIM:614298
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit...	ORPHA:99750
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Neonatal death	OMIM:614870
Joubert Syndrome 10	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:300804
Meningioma	Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Brain stem compression, Increas...	ORPHA:2495
Hoyeraal-Hreidarsson Syndrome	Cerebral cortical atrophy, Generalized hypopigmentation of hair, Ventriculomegaly, Premature gray...	ORPHA:3322
Pyruvate Dehydrogenase Deficiency	Spasticity, Ventriculomegaly, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, ...	ORPHA:765
Oxoglutaric Aciduria	Hydrocephalus, Hypertonia, Ataxia	ORPHA:31
Joubert Syndrome 7	Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem	OMIM:611560
Houge-Janssens Syndrome 2	Abnormal hair whorl, Ventriculomegaly, Inability to walk, Gait ataxia, Hydrocephalus	OMIM:616362
Adams-Oliver Syndrome 2	Alopecia, Small nail, Lateral ventricle dilatation, Cerebral atrophy, Low anterior hairline, Limb...	OMIM:614219
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Subacute Inflammatory Demyelinating Polyneuropathy	Increased CSF protein concentration, Somatic sensory dysfunction, Difficulty walking, Positive Ro...	ORPHA:206594
Infantile Sialic Acid Storage Disease	Hydrocephalus, Hypopigmentation of the skin, Fair hair, Cerebral atrophy	OMIM:269920
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Lateral ventricle dilatation, Atrial septal defect, Ventricular septal ...	OMIM:618330
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion, Cardiomyopathy	OMIM:619046
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality o...	ORPHA:2720
Meckel Syndrome, Type 10	Cerebellar hypoplasia, Dilated fourth ventricle, Dandy-Walker malformation, Molar tooth sign on MRI	OMIM:614175
Ataxia-Telangiectasia	Spasticity, Premature graying of hair, Tremor, Gait disturbance, Multiple cafe-au-lait spots, Ata...	ORPHA:100
Hydrocephalus, Congenital, X-Linked	Spastic paraplegia, Spasticity, Aqueductal stenosis, Hydrocephalus	OMIM:307000
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor ap...	ORPHA:529665
Muscle-Eye-Brain Disease	Hemiplegia/hemiparesis, Gait disturbance, Hydrocephalus, Hypertonia, Meningocele, Holoprosencephaly	ORPHA:588
Molybdenum Cofactor Deficiency, Type A	Ventriculomegaly, Cerebral atrophy, Opisthotonus, Gliosis, Myoclonic spasms, Spastic tetraparesis...	OMIM:252150
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:240085
Neurodegeneration With Brain Iron Accumulation 2B	Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Intenti...	OMIM:610217
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Spastic tetraplegia	OMIM:300886
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Tremor, Ataxia, Generalized cerebral atrophy/hypoplasia, Bradykinesia, Poor fine ...	ORPHA:36387
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni...	OMIM:137440
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar verm...	OMIM:213300
Gm2 Gangliosidosis, Ab Variant	Cerebral atrophy, Neurodegeneration, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal...	ORPHA:309246
Hsd10 Disease, Infantile Type	Frontotemporal cerebral atrophy, Poor coordination, Cerebral atrophy, Increased CSF lactate, Neur...	ORPHA:391428
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Ataxia	OMIM:172850
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Myelopathy, Resting tremor, Somatic sensory dysfunction, Cerebel...	ORPHA:909
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr...	OMIM:614381
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hypertrophic cardiomyopathy, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum,...	ORPHA:79279
Pyruvate Dehydrogenase E2 Deficiency	Broad-based gait, Arm dystonia, Difficulty walking, Speech apraxia, Abnormal CSF pyruvate family ...	ORPHA:79244
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Spasticity, Ventriculomegaly, Difficulty walking, Neurodegeneration, Long eyelashes, Rigidity, Hy...	OMIM:618476
Oculopharyngodistal Myopathy 3	Increased CSF protein concentration, Pigmentary retinopathy, Tremor, Ataxia	OMIM:619473
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Ataxia, Hypopigmentation o...	ORPHA:411515
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventriculomegaly, Hypoplasia of the brainstem, Abnormal heart morphology, Cerebellar dysplasia, P...	ORPHA:500159
Lissencephaly 5	Spastic paraplegia, Occipital encephalocele, Hydrocephalus	OMIM:615191
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416

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