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Gene: Vac14 MGI:2157980

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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.

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
Unsteady gait, Ankle clonus, Hypertonia, Steppage gait, Dystonia, Loss of ambulation, Craniofacia... OMIM:617054
Yunis-Varon Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Neuronal loss in central nerv... ORPHA:3472

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Gait ataxia... OMIM:213200
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Gait atax... ORPHA:225154
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... ORPHA:204
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Broad-based gait, R... 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
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... OMIM:617018
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Gait ... OMIM:221820
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dystonia, Neuronal loss in ce... OMIM:600795
Pineocytoma
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251912
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Hand tremor, Distal sensory impairment, Degeneration of anterior horn cells,... OMIM:604484
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia OMIM:300857
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo... OMIM:604218
Developmental And Epileptic Encephalopathy 14
Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti... OMIM:614959
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Atypical Teratoid Rhabdoid Tumor
Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia ORPHA:99966
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia ORPHA:2807
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft, Fusion of the left and right thal... OMIM:617542
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... OMIM:600116
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatr... ORPHA:2703
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Olivopont... ORPHA:370959
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Abnormal tha... ORPHA:467166
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia, Intention tremor OMIM:190200
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Dystonia, Ataxia, Par... OMIM:109150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis, Cerebral atrophy, Gliosis, Tetraparesis... OMIM:105550
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ataxia, Ventriculomegaly OMIM:618709
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Ventricu... OMIM:612936
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Neurodegene... OMIM:615889
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Degeneration of the lateral cortico... ORPHA:275872
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cafe-au-lait... OMIM:616291
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Premature gray... ORPHA:33445
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Decreased thalamic volume, Cerebellar hypoplasia OMIM:619072
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Abnormality of extrapyramidal mo... ORPHA:275864
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Abnormal cerebrospinal fluid morphology, Tremor, Babinski ... ORPHA:251282
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Melanocytic nevus, Sparse body hai... ORPHA:1008
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Decreased thalamic volume OMIM:613668
Huntington Disease-Like 1
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Basal ganglia gliosis, Global brain a... OMIM:603218
Cach Syndrome
Cerebellar atrophy, T2 hypointense thalamus, Optic atrophy, Abnormal pons morphology, Lateral ven... ORPHA:135
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... OMIM:611302
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Lateral ventricle dilatation, Gait disturbance,... OMIM:221770
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired pain sensati... ORPHA:99947
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal atax... OMIM:615768
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa... OMIM:615924
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Pontocerebellar Hypoplasia, Type 4
Spasticity, Hypertonia, Gliosis, Myoclonus OMIM:225753
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... OMIM:601104
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Athetosis, Spasticity, Hypopigmentation of the skin, Dandy-Walker malformation OMIM:257800
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration OMIM:610951
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Increased CSF homovanillic a... OMIM:613135
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Hemimegalencephaly
Hemiparesis, Gliosis, Myoclonus, Ventriculomegaly ORPHA:99802
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Cerebellar gliosis, Cerebral atrophy, Increased CSF lactate, Lateral v... ORPHA:79243
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Ventriculomegaly, Difficulty walking, Astrocytosis OMIM:611087
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Alexander Disease
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Palatal tremor, Increased CSF protei... OMIM:203450
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Broad-based gait, Ataxia, Tremor, Hirsutism, Dysmetria, Gait ataxia, Dysdiado... OMIM:610185
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... OMIM:604213
Gómez-López-Hernández Syndrome
Ataxia, Impaired pain sensation, Hydrocephalus, Alopecia of scalp, Toenail dysplasia ORPHA:1532
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Leigh Syndrome
Ataxia, Increased CSF lactate, Pigmentary retinopathy, Gliosis, Dystonia, Spasticity, Hypertrichosis OMIM:256000
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... OMIM:302500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Small nail OMIM:619470
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Hippocampal sclerosis, Myoclonus OMIM:615400
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Ventriculomegaly OMIM:619561
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Spasticity, Ventriculomegaly ORPHA:168486
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Gliosis OMIM:613002
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Spastic tetraplegia, Tetraplegia, Hypertonia, Gliosis, Increased CSF protein concentration OMIM:608033
Alexander Disease Type I
Cerebellar atrophy, Hydrocephalus, Abnormal thalamic MRI signal intensity ORPHA:363717
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Hy... ORPHA:300570
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... OMIM:615491
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Cerebral... ORPHA:306669
Intellectual Developmental Disorder, X-Linked 12
Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Spasticity, Ventriculomegaly OMIM:300957
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Cerebellar calcifications OMIM:618824
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Gliosis, Dystonia, Neuronal ... ORPHA:683
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:612319
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Synophrys, Unsteady gait, Dysmetria, Gait... OMIM:616127
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Later... OMIM:619847
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Hypoplastic toenails, Cerebral atrophy, Increased CSF lactate, Gliosis, Brain... OMIM:604377
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification, Cerebellar calcifications OMIM:615483
Masa Syndrome
Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gait, Ventriculom... OMIM:303350
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Increased CSF lactate, Gliosis, M... OMIM:614946
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... OMIM:617145
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Ag... ORPHA:250972
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Gliosis, Spasticity OMIM:615095
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... ORPHA:521406
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosu... ORPHA:314621
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... ORPHA:79263
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ... ORPHA:73256
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... OMIM:615157
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:614019
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait OMIM:618387
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Anterior hypopituitarism, Abnormal midbrain morph... ORPHA:280195
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... ORPHA:306692
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, CSF pleocytosis, Gait disturbance, Increas... OMIM:603472
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dystonia,... OMIM:617916
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hydrocephalus, Cerebral atrophy, Tetraplegia,... OMIM:616034
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Facial palsy, Abnormal midbrain morph... ORPHA:68
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurode... OMIM:618321
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Increased CSF lactate, Choreoathetosis, Dystonia, Hypoglycorrha... OMIM:612126
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal loss in central ... OMIM:614498
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Writer's cramp, Involuntary move... ORPHA:98759
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Ventriculomegaly, Tre... ORPHA:845
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251915
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cereb... ORPHA:397951
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Azoospermia, Focal T2 hyperintense thalamic lesion OMIM:613724
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Progressive Non-Fluent Aphasia
Parkinsonism, Temporal cortical atrophy, Astrocytosis, Frontotemporal cerebral atrophy, Abnormali... ORPHA:100070
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Atr... OMIM:608629
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Increased CSF lactate, Progressive cerebella... ORPHA:139485
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of ... OMIM:619306
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Corpus callosum atrophy, Babinski sign, Pseudobulbar paralysis, Gliosis, Spasticity OMIM:169500
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Abnormal brainstem morphology ORPHA:88619
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Optic atrophy OMIM:619057
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Sparse eyebrow, Inab... OMIM:617193
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Orthostatic hypotension, Abnormal substantia nigra morphology, Lateral vent... ORPHA:2822
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Hsd10 Disease
Ataxia, Tremor, Rigidity, Frontotemporal cerebral atrophy, Choreoathetosis, Gait disturbance, Myo... ORPHA:391417
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Rigidity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Tremor, Frontal upsweep of hair, Spasticity, Cerebral cortical atrophy OMIM:300983
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, T2 hypointense thalamus, Optic disc pallor ORPHA:1947
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang... ORPHA:59315
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Pontocerebellar Hypoplasia, Type 2A
Chorea, Opisthotonus, Gliosis, Extrapyramidal dyskinesia, Dystonia, Cerebral cortical atrophy OMIM:277470
Joubert Syndrome 30
Cerebellar atrophy, Dandy-Walker malformation, Molar tooth sign on MRI, Superior cerebellar dyspl... OMIM:617622
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Left ventricular... ORPHA:444013
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Difficulty ... ORPHA:280210
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Abnormal pyramidal sign, Cerebral atrophy, Abnormality of extrapyramidal motor fun... OMIM:300884
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Impair... ORPHA:137898
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Cryptorchidism, Interhypothalamic adhesion, Atrioventricular canal defect, Agenesis... OMIM:618929
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Unsteady gait, Gait disturbance, Gliosis OMIM:603896
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Focal T2 hyperintense thalamic lesion, Abnormal heart morp... ORPHA:79264
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ventriculomegaly, Neurodegeneration, Gliosis, Brain... OMIM:214150
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... ORPHA:485421
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait dist... OMIM:615643
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy, ... OMIM:164500
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Spasticity OMIM:615599
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... OMIM:256710
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Cerebellar hypoplasia, Lateral ventricle dilatation OMIM:618266
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dys... ORPHA:309854
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Spinocerebellar Ataxia 2
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Edinburgh Malformation Syndrome
Frontal hirsutism, Hydrocephalus OMIM:129850
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Inability to walk, Hydrocephalus, Spastic tetraplegia, Hypertonia OMIM:618174
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Lateral ventricle dilatation, Gliosis, Apraxia, Neuronal loss in central nervous sy... OMIM:607485
Joubert Syndrome 18
Molar tooth sign on MRI, Agenesis of corpus callosum, Agenesis of cerebellar vermis, Ventricular ... OMIM:614815
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology ORPHA:557003
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Facial diplegia, Optic atrophy, Abnormal thalamic MRI si... ORPHA:254930
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Agenesis of corpus callosum, Abnormal brainstem morphology, Ventr... ORPHA:255182
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Lissencephaly, X-Linked, 2
Spasticity, Gliosis, Ventriculomegaly OMIM:300215
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Hypertrichosis OMIM:201550
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Axonal degeneration, Impaired distal vibrat... OMIM:208920
Fried Syndrome
Hydrocephalus, Gait disturbance, Spastic diplegia ORPHA:85335
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Axonal degeneration, Babinski sign, Dysm... OMIM:302800
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Dystonia, Spas... OMIM:610333
Nasu-Hakola Disease
Hydrocephalus, Chorea, Oculomotor apraxia, Spasticity, Cerebral cortical atrophy, Ventriculomegaly ORPHA:2770
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unste... OMIM:616795
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... ORPHA:228360
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Brain atrophy, Hydranencephaly, Dandy-Walker malformation, Vent... OMIM:617967
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Increased CSF lactate, Neurodegeneration, Gliosis, Spasticity, Neuronal loss ... OMIM:616239
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Increased CSF lactate, Myoclonus OMIM:612016
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Upper limb spasticity, Gliosis, Gait disturbance ORPHA:457240
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619302
Central Precocious Puberty In Male
Hydrocephalus, Astrocytoma, Abnormality of secondary sexual hair, Optic nerve glioma ORPHA:649929
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Optic atrophy ORPHA:254881
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Neoplasm of the anterior pituitary, Hydrocephalus, Pituita... ORPHA:54595
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast... OMIM:203700
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... OMIM:210000
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Abnormal heart morphology, Lateral ventricle di... ORPHA:356961
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Band Heterotopia
Spasticity, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly OMIM:600348
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Distal sensory ... OMIM:616505
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Abn... ORPHA:435638
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hy... OMIM:613153
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... OMIM:609454
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degene... ORPHA:77299
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Facial palsy, Ab... ORPHA:79139
Leigh Syndrome
Cerebellar atrophy, Ventricular septal defect, Abnormal brainstem MRI signal intensity, Focal T2 ... ORPHA:506
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation OMIM:619405
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holoprosencephaly, Lat... OMIM:609637
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia ORPHA:488635
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Decreased CSF ... OMIM:261640
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba... OMIM:609270
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Low anterior hairline, Abnormal pyram... OMIM:248500
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... ORPHA:2885
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor OMIM:617121
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hypertonia ORPHA:250994
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Ventricular septal... OMIM:617751
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... ORPHA:300573
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Hydrocephalus, Cardiomyopathy, Hypoplasia of the brai... OMIM:613155
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Neuroferritinopathy
T2 hypointense thalamus, Iron accumulation in substantia nigra, Abnormal thalamic MRI signal inte... ORPHA:157846
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Gliosis, Shuffling gait, Dystonia... ORPHA:411602
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Gait disturbance ORPHA:26
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology, Hypertrophic cardiomyopathy OMIM:617757
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ... ORPHA:101070
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Krabbe Disease
Diffuse cerebral atrophy, Hydrocephalus, Hypertonia, Neurodegeneration, Decerebrate rigidity, Pro... OMIM:245200
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Abnormal thalamus morphology, Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia, Ventriculomegaly OMIM:618222
Congenital Hydrocephalus
Hydrocephalus, Optic atrophy, Abnormal heart morphology, Colpocephaly, Ventriculomegaly ORPHA:2185
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Spastic tetraplegia, Gliosis, Dy... ORPHA:3240
Griscelli Syndrome
Encephalocele, Abnormal eyebrow morphology, Ataxia, Abnormal eyelash morphology, Silver-gray hair... ORPHA:381
New-Onset Refractory Status Epilepticus
Cerebellar edema, Abnormal thalamic MRI signal intensity ORPHA:363558
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Reduction of oligodendroglia, Tre... OMIM:312080
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Ravine Syndrome
Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin... ORPHA:99852
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... ORPHA:330050
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Cerebral atrophy, G... OMIM:618877
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus ... OMIM:618736
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Ataxia, Synophrys, Spastic paraplegia, Hydrocephalus, Cerebral atrophy, Opistho... OMIM:614969
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia, Gliosi... OMIM:252160
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Lower limb hypertonia, Gliosis, Myocl... OMIM:301072
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Synophrys, Hydrocephalus, Broad eyebrow OMIM:618302
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia o... OMIM:615181
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Cerebral atrophy, Increased CSF lactate, Choreoathetosis, Myoclonus, Dystonia, Episodic a... OMIM:312170
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, CSF pleocytosis, Increased CSF interferon alpha, Dystonia, Loss of ambulation OMIM:615010
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ... OMIM:607694
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Optic atrophy, Lateral ventricle dilatat... OMIM:613154
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Spa... ORPHA:329284
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla... OMIM:610688
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis, Tremor ORPHA:66633
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... ORPHA:217260
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Late-Infantile/Juvenile Krabbe Disease
Increased CSF protein concentration, Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spast... ORPHA:206443
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Decr... OMIM:619911
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... ORPHA:96
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Cerebral atrop... OMIM:617710
Panhypophysitis
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... ORPHA:95513
Joubert Syndrome 14
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ventricular septal defect, Hydroceph... OMIM:614424
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the ve... OMIM:607596
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Adenohypophysitis
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... ORPHA:95512
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal optic di... ORPHA:397715
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Abnormal cerebellum morphology, Abnormal thalamic MRI si... ORPHA:83597
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Molar tooth sig... ORPHA:220493
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnor... ORPHA:289494
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Kleeblattschaedel
Hydrocephalus OMIM:148800
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Spasticity, Intention tremor OMIM:614307
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,... OMIM:168600
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Decreased CSF albumin concentration, Inability to walk, Chorea, Cerebral atro... ORPHA:404454
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia OMIM:220220
L1 Syndrome
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Gait disturbance, Spasticity ORPHA:275543
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Molar tooth sign on MRI, Agen... ORPHA:220497
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Joubert Syndrome 9
Molar tooth sign on MRI, Ventriculomegaly OMIM:612285
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... ORPHA:3095
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Ventriculomegaly OMIM:619556
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Difficulty walking... OMIM:159950
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal pons morphology, Abnormal medulla oblong... ORPHA:206448
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Mo... OMIM:611134
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy OMIM:619092
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys, Hydrocephalus, Low posterior hairline, Hypertonia, Generalized hirsu... ORPHA:1895
Hyperphenylalaninemia, Bh4-Deficient, B
Rigidity, Tremor, Choreoathetosis, Increased CSF phenylalanine concentration, Hyperkinetic moveme... OMIM:233910
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Abnormal thalamic MRI signal intensity, Abnormal cerebellar cortex morpho... ORPHA:70595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Corpus Callosum, Partial Agenesis Of, X-Linked
Spasticity, Hydrocephalus, Ventriculomegaly OMIM:304100
Adrenoleukodystrophy
Alopecia, Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodege... OMIM:300100
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor... OMIM:617988
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism OMIM:606688
Spastic Paraplegia 9B, Autosomal Recessive
Corpus callosum atrophy, Tremor, Babinski sign, Impaired distal vibration sensation, Spastic para... OMIM:616586
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephal... OMIM:608091
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity ORPHA:2182
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Generalized dystonia, Ataxia, Inability to walk, Chorea, Increased CSF ... ORPHA:70472
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal p... OMIM:614298
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P... ORPHA:206594
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... ORPHA:83629
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere... ORPHA:442835
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy OMIM:207950
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tr... ORPHA:25
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Meningioma
Enlarged pituitary gland, Papilledema, Facial palsy, Reduced circulating prolactin concentration,... ORPHA:2495
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Hogue-Janssen Syndrome 2
Inability to walk, Abnormal hair whorl, Hydrocephalus, Gait ataxia, Ventriculomegaly OMIM:616362
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Joubert Syndrome 7
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Adams-Oliver Syndrome 2
Alopecia, Hydrocephalus, Low anterior hairline, Cerebral atrophy, Lateral ventricle dilatation, S... OMIM:614219
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypertonia, ... ORPHA:3322
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Lateral ventricle dila... OMIM:618330
Piebaldism
Hypopigmentation of hair, White eyelashes, Ataxia, White eyebrow, Synophrys, Piebaldism, Hypopigm... ORPHA:2884
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Focal T2 hyperintense thalamic lesion OMIM:619046
Infantile Sialic Acid Storage Disease
Hydrocephalus, Fair hair, Hypopigmentation of the skin, Cerebral atrophy OMIM:269920
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Cerebral atrophy, Dysmetria, Gait ataxia, Bradykinesia... OMIM:610217
Meckel Syndrome, Type 10
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:614175
Ataxia-Telangiectasia
Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hair, Gait disturbance, Multiple c... ORPHA:100
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality of the diencephalon, Abnormal br... ORPHA:2720
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencephaly ORPHA:588
Oxoglutaric Aciduria
Hydrocephalus, Hypertonia, Ataxia ORPHA:31
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Spastic tetraplegia OMIM:300886
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Spasticity, Spastic paraplegia, Hydrocephalus OMIM:307000
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Gliosis, Myoclonic spa... OMIM:252150
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Ataxia, Rigidity, Hydrocephalus, Spastic tetraplegia, Long eyelashes, Neurodege... OMIM:618476
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock, Ataxia OMIM:172850
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... ORPHA:391428
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... ORPHA:309246
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:614381
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnor... ORPHA:500159
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Hypertrophic cardiomyopathy, Optic atrophy, Abnormal brains... ORPHA:79279
Joubert Syndrome 1
Optic disc pallor, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Cerebellar ve... OMIM:213300
Oculopharyngodistal Myopathy 3
Tremor, Pigmentary retinopathy, Ataxia, Increased CSF protein concentration OMIM:619473
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... ORPHA:36387
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Neurodegenerati... ORPHA:79244
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal brai... ORPHA:98755
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ventriculomegaly, Ataxia, Tremor, Rigidity, Myelopathy, Increased CSF lactate, Cervi... OMIM:617186
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Dystonia, Ataxia, Parkinsonism, ... ORPHA:909
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abn... ORPHA:163961
Joubert Syndrome 37
Molar tooth sign on MRI, Cryptorchidism, Cerebellar vermis hypoplasia, Decreased testicular size OMIM:619185
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Spastic paraplegia OMIM:615191
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Broad-based gait, Ataxia, Hypopigmentation of the skin, Iris hypopigmen... ORPHA:411515
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spast... ORPHA:529665
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... ORPHA:97355
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocyt... OMIM:249400
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Decreased response to growth hormone stimulation test, Optic nerve hyp... OMIM:609053
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, ... ORPHA:444072
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Abnormal cerebrospinal fluid morphology, Dilated thir... ORPHA:314404
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Cockayne Syndrome Type 3
Dry hair, Unsteady gait, Astrocytosis, Premature graying of hair, Brain atrophy, Difficulty walki... ORPHA:90324
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology ORPHA:2959
Combined Oxidative Phosphorylation Defect Type 29
Axonal degeneration, Poor coordination, Increased CSF lactate, Subependymal cysts, Neurodegenerat... ORPHA:478029
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired propr... OMIM:606002
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Small pituitary gland, Dysgenesis of the cerebellar vermis, Molar t... OMIM:619479
Hydranencephaly
Optic nerve hypoplasia, Dilatation of the ventricular cavity, Thalamic edema, Dysgenesis of the t... ORPHA:2177
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Decreased CSF albumin concentration, Chorea, Dysmetria... OMIM:615273
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Spasticity, Increased CSF protein co... OMIM:272200
Pallister-Hall-Like Syndrome
Chiari type I malformation, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma OMIM:241800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Synophrys, Noncommunicating hydrocephalus, Low posterior hairline, Clumsiness, Thin eyebr... OMIM:619320
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Mitral valve prolapse ORPHA:309155
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Hydrocephalus, Gait disturbance ORPHA:2181
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Aganglionic megacolon ORPHA:2318
Joubert Syndrome 38
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased response to growth hormone s... OMIM:619476
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Malan Overgrowth Syndrome
Optic disc pallor, Hypoplasia of the brainstem, Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... ORPHA:247234
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ventriculomegaly, Ataxia, Atrophy of the spinal cord, Hydrocephalus, Hemip... ORPHA:395
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Melanocytic nevus OMIM:612247
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... OMIM:128100
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon ORPHA:2570
Williams-Beuren Region Duplication Syndrome
Speech apraxia, Hydrocephalus, Long eyelashes, Horizontal eyebrow, Gait disturbance, Ventriculome... OMIM:609757
Glutaric Acidemia I
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... OMIM:231670
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... ORPHA:52368
Tenorio Syndrome
Ventriculomegaly, Cerebral palsy, Hydrocephalus, Clumsiness, Gait disturbance, Cerebral cortical ... OMIM:616260
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Increased CSF lactate, Choreoathetosis, Dystonia, ... OMIM:617664
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Cerebral atrophy OMIM:616521
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Ventriculomegaly, Cerebral palsy, Ataxia, Hydrocephalus, Colpoceph... OMIM:619833
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Cryptorch... ORPHA:565624
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Hydrocephalus, Low poste... ORPHA:2701
Coach Syndrome 1
Molar tooth sign on MRI, Optic disc pallor, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of t... OMIM:216360
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616355
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation, Facial palsy OMIM:256850
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Gait disturbance, Ventriculomegaly ORPHA:272
Aceruloplasminemia
Abnormal thalamic MRI signal intensity, Abnormal dentate nucleus morphology ORPHA:48818
Holoprosencephaly 7
Partial agenesis of the corpus callosum, Hydrocephalus, Panhypopituitarism, Hypoplasia of the bra... OMIM:610828
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect OMIM:616816
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hydrocephalus, Ventriculomegaly ORPHA:858
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with... OMIM:607060
Joubert Syndrome
Encephalocele, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Gait disturbance, Oculomotor... ORPHA:475
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Hyperpigmentation of the skin, Parkinsonism, Akinesia, Tremor, Rigidity, ... OMIM:234200
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Cerebellar hypoplasia OMIM:618731
Myopathy, Mitochondrial, And Ataxia
Ataxia, Thick hair, Tremor, Inability to walk, Limb ataxia, Distal sensory impairment, Dysmetria,... OMIM:617675
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Ventricular septal defect, Optic atrophy, Lateral ventricle dilatation,... ORPHA:3078
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Pontocerebellar atrophy, Astrocytosis ORPHA:258
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials ORPHA:529808
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ... OMIM:615673
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Hypertonia, Spastic tetraparesis, Cerebral atrophy ORPHA:171839
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Hypoplastic left heart, Hypothalamic hamartoma, Molar tooth sign on... OMIM:277170
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Dandy-Walker ... OMIM:618606
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Cryptorchidism, Subvalvular aortic stenosis, Cerebellar dysplasia OMIM:250951
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Gait disturbance OMIM:236690
Kleefstra Syndrome Due To A Point Mutation
Gliosis, Ventriculomegaly ORPHA:261652
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal dentate nucleus m... OMIM:619517
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Long eyelashes, Ventriculomegaly OMIM:618577
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Ventriculomegaly, Facial-lingual fasciculations, Hydrocephalus, Spa... OMIM:617281
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
47,Xyy Syndrome
Macroorchidism, Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Abnormal... ORPHA:8
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration sensat... OMIM:619574
Pettigrew Syndrome
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, Spasticity, D... OMIM:304340
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Tremor, Numerous pigmented freckles, Brain atrophy, Freckling OMIM:278760
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Bilateral cryptorchidism, Abnormal heart morphology, Hypothalamic h... ORPHA:2754
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Clumsiness OMIM:300558
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Joubert Syndrome 8
Molar tooth sign on MRI, Optic disc pallor OMIM:612291
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation OMIM:300982
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Cerebral Visual Impairment
Cerebral palsy, Hydrocephalus, Clumsiness, Central nervous system degeneration, Neurodegeneration... ORPHA:447788
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Hemangioblastoma
Dysesthesia, Hydrocephalus ORPHA:252054
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
O'Sullivan-Mcleod Syndrome
Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Spastic tetraplegia, Cerebral atrop... ORPHA:572798
Congenital Sialidosis Type 2
Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Generalized hypertrichosis, Spasticity ORPHA:93400
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... OMIM:105210
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Obesity And Hypopigmentation
Red hair OMIM:620195
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Patent ductus arteriosus, Lateral ventricle dilatation, Cerebellar... OMIM:617397
Classic Phenylketonuria
Hypopigmentation of hair, Tremor, Paraplegia, Hypertonia, Hemiplegia, Hypopigmentation of the skin ORPHA:79254
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus, Hirsutism OMIM:175700
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... ORPHA:251937
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Cerebellofaciodental Syndrome
Ventricular septal defect, Hypoplasia of the pons, Cryptorchidism, Mitral valve prolapse, Cerebel... OMIM:616202
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Ventriculomegaly OMIM:617563
Muenke Syndrome
Hydrocephalus, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Medulloblastoma
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit... ORPHA:616
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Focal Facial Dermal Dysplasia Type Iv
Hemiparesis, Hydrocephalus ORPHA:398189
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arte... ORPHA:434179
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malfo... OMIM:616602
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Ventriculo... ORPHA:370997
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis OMIM:612164
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Abnormal thalamic MRI signal intensity, ... ORPHA:79138
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Hydrocephalus, Hypopigmented skin patches, Abnormality of ski... ORPHA:626
Oculocerebrocutaneous Syndrome
Alopecia, Ventriculomegaly, Abnormal fingernail morphology, Hemiplegia/hemiparesis, Hydrocephalus... ORPHA:1647
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Amelocerebrohypohidrotic Syndrome
Spasticity, Hydrocephalus ORPHA:1946
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypoplastic toenails, Hydrocephalus, Hypertonia, Brain atrophy, Dandy-Walker malformation OMIM:612938
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Atrial septal defect, Ag... OMIM:615219
Arachnoiditis
Hydrocephalus, Paresthesia ORPHA:137817
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Cockayne Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Somatic sensory dysfunction, Dry hair, A... ORPHA:191
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Abnormality of skin pigmentation, Lateral ventricle dilatation, Upper limb... OMIM:300868
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... OMIM:618056
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem, Atrial septal defect, M... OMIM:616546
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus... OMIM:615948
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Brittle hair, Ataxia, Cerebral atrophy, Gliosis, Neonatal death, Spasticity OMIM:124000
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Intellectual Developmental Disorder, Autosomal Dominant 56
Pontocerebellar atrophy, Lateral ventricle dilatation OMIM:617854
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Bresek Syndrome
Neonatal death, Alopecia, Hydrocephalus ORPHA:85284
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Ventriculomegaly, Hypothal... OMIM:619775
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Lhermitte-Duclos Disease
Trichilemmoma, Hydrocephalus, Ataxia ORPHA:65285
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Patent ductus arteriosus, Stillbirth, Cerebellar hypoplasia, Molar tooth sign on ... OMIM:616300
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Dural Sinus Malformation
Somatic sensory dysfunction, Ataxia, Parkinsonism, Myelopathy, Hydrocephalus, Poor coordination, ... ORPHA:97339
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Oculomotor apraxia, Hydrocephalus, Ventriculomegaly OMIM:615630
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Gliosis OMIM:231680
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cerebellar vermis hypoplasia ORPHA:284417
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis ORPHA:26791
Joubert Syndrome 39
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hypoplastic left heart OMIM:619562
Alexander Disease
Ataxia, Clonus, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyramidal sign, Tetr... ORPHA:58
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration, Ventriculomegaly OMIM:620210
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Synophrys, Hydrocephalus, Cerebral atrophy, Colpocephaly, Ventriculomegaly OMIM:620156
Chediak-Higashi Syndrome
Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Ocular albinism, Giant melanosomes in... OMIM:214500
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Temple Syndrome
Few cafe-au-lait spots, Hydrocephalus ORPHA:254516
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... OMIM:243910
Pyruvate Carboxylase Deficiency
Ataxia, Increased CSF alanine concentration, Tremor, Increased CSF citrulline concentration, Cere... ORPHA:3008
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Increased CS... OMIM:616271
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Ventriculomegaly OMIM:261515
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Abnormal fingernail morphology, Hydrocephalus, Meningocele, Anencephaly, Spinal dy... ORPHA:1908
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Myoclonus, Gait imbalance, Hypopigmen... ORPHA:98794
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hyperconvex nail, Highly arched eyebrow, Hydrocephalus, Athetosis, Small nail, Cerebral cortical ... OMIM:239300
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Lower limb hypertonia, Ventriculomegaly, Brain atrophy ORPHA:2169
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, C... OMIM:615356
Full Nf2-Related Schwannomatosis
Somatic sensory dysfunction, Astrocytoma, Glioma, Myelopathy, Hydrocephalus, Unsteady gait, Epend... ORPHA:637
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp... OMIM:618619
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Paraparesis, Inability to walk, Hydrocephalus, S... ORPHA:2356
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Highly arched eyebrow, Tremor, Low anterior hairline, Dysmetria, Increased CSF ... OMIM:220111
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration OMIM:146500
Autosomal Dominant Spastic Paraplegia Type 9A
Corpus callosum atrophy, Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensa... ORPHA:447753
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Akinesia, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Meckel Syndrome, Type 1
Dilated fourth ventricle, Ventriculomegaly, Cryptorchidism, Patent ductus arteriosus, Hydrocephal... OMIM:249000
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage, Hypertrophic cardiomyopathy, Abnormal heart morphology ORPHA:464321
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,... ORPHA:411511
Crouzon Syndrome
Hydrocephalus, Hypopigmented skin patches, Melanocytic nevus ORPHA:207
Gabriele-De Vries Syndrome
Waddling gait, Sparse eyebrow, Tremor, Frontal upsweep of hair, Gliosis, Dystonia, Breast hypopla... ORPHA:506358
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Spastic di... OMIM:616878
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Brittle hair, Ataxia, Cerebral atrophy OMIM:616084
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Ventriculomegaly OMIM:618291
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Gait disturbance OMIM:613330
Adams-Oliver Syndrome
Encephalocele, Alopecia, Hydrocephalus, Aplastic/hypoplastic toenail, Hemiparesis, Hypertonia, Ab... ORPHA:974
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect, Hypothalamic hamartoma OMIM:619908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Partial absence of cerebellar vermis, Hydrocephalus, Hypoplasia of the brai... OMIM:613150
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus, Gait disturbance, ... ORPHA:1454
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Trisomy 17P
Hydrocephalus, Low posterior hairline, Hypertonia, High anterior hairline, Generalized hirsutism,... ORPHA:261290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Optic atrophy, Hypoplasi... OMIM:236670
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Hypertonia, Breast aplasia, Gait disturbance, Gliosis, Cerebral cortica... ORPHA:268261
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Supernumerary nipple, Hydrocephalus, Aplastic/hypoplastic toenail, Fine hair, G... ORPHA:1812
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Hydrocephalus, Mitral valve prolapse, Right... OMIM:612863
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity ORPHA:803
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Encephalocraniocutaneous Lipomatosis
Alopecia, Linear hyperpigmentation, Astrocytoma, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, Spasticity, Hypertrichosis OMIM:618590
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Abnormality of ret... ORPHA:466768
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Upp... ORPHA:268810
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Whipple Disease
Generalized hyperpigmentation, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus ORPHA:3452
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Cog5-Cdg
Cerebellar atrophy, Cryptorchidism, Lateral ventricle dilatation, Atrophy/Degeneration affecting ... ORPHA:263487
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Premature graying of hair, Hypertonia, Iris hypopigme... ORPHA:79477
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168605
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Optic nerve dysplasia, Lateral ... OMIM:617296
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, Hydrocephalus ORPHA:2180
Emanuel Syndrome
Torticollis, Ventriculomegaly, Hydrocephalus, Cerebral atrophy, Dandy-Walker malformation OMIM:609029
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Numerous pigmented freckles, Ataxia, Hydrocephalus, Spasticity ORPHA:220295
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Microphthalmia, Syndromic 3
Optic nerve aplasia, Ventricular septal defect, Anterior pituitary hypoplasia, Optic nerve hypopl... OMIM:206900
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Patent ductus arterios... OMIM:619869
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Age... OMIM:620113
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly, Cerebral atrophy OMIM:614576
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ataxia, Ocular albinism, Abnormal pyramidal sign, Spastic tetraplegia, ... ORPHA:2719
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Colpocephaly, Mi... OMIM:617260
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Low posterior hairline OMIM:220210
Developmental And Epileptic Encephalopathy 31B
Agenesis of corpus callosum, Colpocephaly, Optic atrophy, Ventriculomegaly OMIM:620352
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Abnormal CSF ornithine concentrat... ORPHA:2203
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Fasciculations, Brain atrophy, Cerebral... OMIM:620327
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ventriculomegaly, Ataxia, Thick hair, Synophrys, Hydrocephalus, Abnormal pyra... ORPHA:581
Glutamine Deficiency, Congenital
Neonatal death, Subependymal cysts, Lateral ventricle dilatation OMIM:610015
Osteopetrosis, Autosomal Recessive 5
Clonus, Hydrocephalus, Spastic tetraplegia, Cerebral atrophy, Hypertonia, Stillbirth, Ventriculom... OMIM:259720
Cardiofaciocutaneous Syndrome
Brittle hair, Generalized hyperpigmentation, Slow-growing hair, Abnormal eyelash morphology, Hydr... ORPHA:1340
Peho Syndrome
Cerebellar atrophy, Hydrocephalus, Atrophy/Degeneration affecting the brainstem, Cerebral cortica... ORPHA:2836
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Abnormal midbrain morphology, Adrenocortic... ORPHA:293987
Gorlin Syndrome
Hydrocephalus, Melanocytic nevus ORPHA:377
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation OMIM:600721
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Distal Deletion 10Q
Patent ductus arteriosus, Facial diplegia, Lateral ventricle dilatation, Cerebellar hypoplasia, A... ORPHA:96148
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Fine hair, Premature graying of hair, Abnormality of ext... OMIM:612199
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Hypertonia, Gait disturbance, Multiple cafe... ORPHA:3214
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Hypoplastic toenails, Sparse eyebrow, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Oculomotor apraxia, Hydrocephalu... OMIM:115150
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Abnormality of the hairline, Cerebral atrophy OMIM:614886
Nephronophthisis 18
Hydrocephalus OMIM:615862
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Decreased thalamic volume ORPHA:168577
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Highly arched eyebrow OMIM:620157
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Hypermelanotic macule, Ventriculomegaly ORPHA:60040
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Ataxia-Telangiectasia
Ataxia, Abnormal hair morphology, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Pro... OMIM:208900
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia OMIM:615919
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Monosomy 18Q
Astrocytoma, Hydrocephalus, Poor coordination, Low anterior hairline, Choreoathetosis ORPHA:1600
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Dilated cardiomyopathy, Colpoc... ORPHA:261250
Alkuraya-Kucinskas Syndrome
Oculomotor apraxia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Ventricular septal defect, Cryptorchidism, Optic nerve dysplasia, Optic atrop... OMIM:614866
Chromosome 17P13.1 Deletion Syndrome
Diffuse cerebral atrophy, Highly arched eyebrow, Spina bifida, Synophrys, Hydrocephalus, Low ante... OMIM:613776
Temple Syndrome
Hydrocephalus OMIM:616222
Congenital Myopathy 22A, Classic
Waddling gait, Synophrys, Normal pressure hydrocephalus, Neonatal death, Frequent falls OMIM:620351
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Lowry-Maclean Syndrome
Hemiparesis, Hydrocephalus, Generalized hypertrichosis ORPHA:2409
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Pelvis-Shoulder Dysplasia
Waddling gait, Spina bifida, Hydrocephalus, Facial hirsutism, Hydranencephaly ORPHA:2839
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Lateral ventricle dilatation, Patent foramen ovale OMIM:620075
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Hydrocephalus, Frontal upsweep of hair, Dandy-Walker malformation OMIM:612582
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal ... ORPHA:464311
Joubert Syndrome 5
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Thickened superior cerebellar peduncle, A... OMIM:610188
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third... ORPHA:544488
1Q44 Microdeletion Syndrome
Synophrys, Hydrocephalus, Ventriculomegaly ORPHA:238769
Crome Syndrome
Renal tubular epithelial necrosis, Cerebellar dysplasia OMIM:218900
Papillorenal Syndrome
Gliosis OMIM:120330
Halperin-Birk Syndrome
Optic atrophy, Colpocephaly, Perimembranous ventricular septal defect, Agenesis of corpus callosu... OMIM:618651
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosu... OMIM:301043
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Hydrocephalus, Neurodegeneration, Hypertrichosis OMIM:309900
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Coarse hair, Hydrocephalus, Thick eyebrow ORPHA:585
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Synophrys, Abnormality of skin pigmentation, Hypertonia, Hypopigmentation of the skin, In... OMIM:619475
Tyrosinemia Type 2
Tremor, Ataxia, Abnormality of the nail ORPHA:28378
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Trisomy 1Q
Hypoplastic toenails, Hydrocephalus, Ventriculomegaly, Aplasia/Hypoplasia of the nails ORPHA:261344
Chédiak-Higashi Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Somatic sensory dysfunction, Hypopigment... ORPHA:167
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
Helsmoortel-Van Der Aa Syndrome
High anterior hairline, Gliosis, Ventriculomegaly, Lateral ventricle dilatation OMIM:615873
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Hydrocephalus, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Cere... OMIM:277400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Holoprosencephaly 14
Cerebellar atrophy, Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalu... OMIM:619895
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Broad-based gait, Gait imbalance, Hypopigmentation of the skin, Iris hy... ORPHA:98795
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus, Facial paralysis OMIM:259710
Emanuel Syndrome
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Cerebral atrophy ORPHA:96170
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Hypoplastic fingernail ORPHA:7
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Pain insensitivity, Hydrocephalus, Distal sensory impairment, Cerebral cortical atrophy, Thick ey... OMIM:616007
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta ORPHA:2437
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Communicating hydrocephalus, Sparse eyebrow, Gait ataxia, Cerebral cortical a... OMIM:617011
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Ataxi... ORPHA:636
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birth, Colpocephaly, Paten... OMIM:618460
Neurofibromatosis, Type I
Inguinal freckling, Astrocytoma, Spina bifida, Aqueductal stenosis, Axillary freckling, Hydroceph... OMIM:162200
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus OMIM:187600
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Hirsutism, Coarse hair, Neurodegeneration, Thick eyebrow OMIM:253220
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Fg Syndrome Type 1
Broad-based gait, Frontal upsweep of hair, Hydrocephalus, Ventriculomegaly ORPHA:93932
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Cryptorchidism, Lateral ventricle dilatation, L... OMIM:611209
Hurler Syndrome
Cerebral palsy, Hydrocephalus, Abnormal pyramidal sign, Abnormality of skin pigmentation, Spastic... ORPHA:93473
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Patent foramen ovale, Pulmonic stenosis OMIM:618914
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Mucopolysaccharidosis Type 1
Hemiplegia/hemiparesis, Hydrocephalus, Low anterior hairline, Paresthesia, Generalized hirsutism ORPHA:579
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal brainstem morpholo... ORPHA:220386
Desmosterolosis
Rigidity, Hydrocephalus, Hypertonia, Spasticity, Ventriculomegaly ORPHA:35107
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Gait disturbance, Ventriculomegaly ORPHA:500055
Aicardi Syndrome
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Optic disc coloboma, Optic... OMIM:304050
Proteus-Like Syndrome
Communicating hydrocephalus, Irregular hyperpigmentation, Heterochromia iridis, Hydrocephalus ORPHA:2969
Niemann-Pick Disease Type C
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Upper mo... ORPHA:646
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Hirsutism OMIM:224400
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Cerebral atrophy, Increased CSF lactate, Hypertonia, Dystonia, Neonatal death, Ve... OMIM:617248
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation ORPHA:85290
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles, Abnormal autonomic nervous system physiology OMIM:616840
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Hydrocephalus, Chiari type I malformation, Lateral ventricle dilatatio... OMIM:619575
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Facial paralysis OMIM:259700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Exaggerated startle response, Holoprosencephaly OMIM:253800
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Cerebral cortical atrophy ORPHA:1834
Wilson Disease
Decreased nerve conduction velocity, Face of the giant panda sign OMIM:277900
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Cockayne Syndrome A
Cerebellar atrophy, Dry hair, Ataxia, Tremor, Retinal pigment epithelial mottling, Cerebral atrop... OMIM:216400
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus OMIM:314390
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven... ORPHA:1855
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Lateral ventricle di... ORPHA:457279
Hydrolethalus
Hydrocephalus, Anencephaly ORPHA:2189
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Supernumerary nipple, Highly arched eyebrow OMIM:619951
Pallister-Hall Syndrome
Ventricular septal defect, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:146510
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Atrophy of the spinal cord, Hydrocephalus, Cerebral atrophy, Poor fine motor coordination... ORPHA:79282
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Hirsutism ORPHA:1865
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology, Abnormal autonomic nervous system phys... ORPHA:93256
Weaver Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Lateral ventricle dilatation, Cerebel... OMIM:277590
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
7Q11.23 Microduplication Syndrome
Sparse anterior scalp hair, Hydrocephalus, Unsteady gait, Dysmetria, Long eyelashes, Horizontal e... ORPHA:96121
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal pyramidal sign, Hypopigme... ORPHA:163746
Hurler Syndrome
Hydrocephalus, Neurodegeneration, Hirsutism OMIM:607014
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thick hair, Inability to walk, Hydrocephalus, Long eyelashes... ORPHA:505248
Orofaciodigital Syndrome I
Hydrocephalus, Abnormal heart morphology, Hypothalamic hamartoma, Agenesis of corpus callosum, Ce... OMIM:311200
Holoprosencephaly
Encephalocele, Highly arched eyebrow, Chorea, Synophrys, Hydrocephalus, Spinal dysraphism, Holopr... ORPHA:2162
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Colpocephaly, Cerebellar vermis hypoplasia, Cryptorchidism OMIM:620083
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Ventricular septal defect, Lateral ventricle dilatation, Cerebellar... ORPHA:1692
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:117300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Walker-Warburg Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Marshall-Smith Syndrome
Ventriculomegaly, Brittle hair, Highly arched eyebrow, Synophrys, Hydrocephalus, Cerebral atrophy... OMIM:602535
Tetrasomy 5P
Hydrocephalus, Depigmentation/hyperpigmentation of skin ORPHA:3309
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly ORPHA:77298
Functioning Gonadotropic Adenoma
Hydrocephalus, Abnormality of secondary sexual hair ORPHA:91348
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly, Brain atrophy OMIM:613603
Striatonigral Degeneration, Childhood-Onset
Unsteady gait, Ankle clonus, Hypertonia, Steppage gait, Dystonia, Loss of ambulation, Craniofacia... OMIM:617054
Opitz-Kaveggia Syndrome
Hydrocephalus, Fine hair, Frontal upsweep of hair, Sparse hair, Spasticity OMIM:305450
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Hydrocephalus OMIM:616482
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Abnormality of the nail, Melanocytic nevus ORPHA:1555
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Aicardi-Goutieres Syndrome 9
Pericarditis, Pericardial effusion, Optic atrophy, Lateral ventricle dilatation, Left ventricular... OMIM:619487
Lateral Meningocele Syndrome
Coarse hair, Meningocele, Hydrocephalus OMIM:130720
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Melanocytic nevus OMIM:616914
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hydrocephalus, Hyperpigmentation of the skin, Hypertrichosis ORPHA:168569
Gaucher Disease
Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Abnormality of skin pigmentation, Abnormal... ORPHA:355
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Patent foramen ovale, Colpocephaly, Enlarged cerebellum, Cryptorchidism ORPHA:477993
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly, Sparse eyebrow, Gait ataxia, Difficulty walking, C... ORPHA:457359
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Desmosterolosis
Spasticity, Hydrocephalus, Ventriculomegaly OMIM:602398
Cockayne Syndrome B
Dry hair, Ataxia, Abnormal hair morphology, Tremor, Cerebral atrophy, Abnormality of skin pigment... OMIM:133540
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Noonan Syndrome 14
Cryptorchidism, Mitral valve prolapse, Lateral ventricle dilatation, Pulmonic stenosis, Hypertrop... OMIM:619745
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Tetraplegia OMIM:257300
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Lateral ventricle dilatation, Atrial septal defect, Dilated third vent... ORPHA:464738
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Rabin-Pappas Syndrome
Hydrocephalus, Highly arched eyebrow OMIM:620155
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly OMIM:300514
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Communicating hydrocephalus, Ataxia, Highly arched eyebrow, Spastic paraplegi... ORPHA:309282
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Mirage Syndrome
Hydrocephalus, Paraplegia OMIM:617053
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Dubowitz Syndrome
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Hydrocephalus, Low anter... ORPHA:235
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Patent duct... ORPHA:177907
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly, Small nail, Hypoplastic fingernail OMIM:123790
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Achondroplasia
Hydrocephalus ORPHA:15
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Sturge-Weber Syndrome
Hydrocephalus, Heterochromia iridis, Cerebral cortical atrophy ORPHA:3205
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles OMIM:605055
Aymé-Gripp Syndrome
Sparse scalp hair, Hydrocephalus, Breast hypoplasia, Long eyelashes, Cerebral cortical atrophy, V... ORPHA:1272
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Patent duct... OMIM:270400
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly, Hypoplastic nipples, Neonatal death OMIM:269860
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Dandy-Walker ma... OMIM:605627
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hydrocephalus, Colpocephaly, Atrial septal defect, A... OMIM:309801
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:614643
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomot... ORPHA:2072
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles OMIM:608907
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation, Brain atrophy ORPHA:314585
Crouzon Syndrome
Hydrocephalus OMIM:123500
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Low anterior hairline, Facial hirsutism OMIM:260660
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Holoprosencephaly OMIM:264480
Jacobsen Syndrome
Abnormal eyelash morphology, Hydrocephalus, Spasticity, Holoprosencephaly OMIM:147791
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ventricular septal defect, Cryptorch... OMIM:210710
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles OMIM:619132
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Lateral ventricle dilatation, Dilated cardiomyopathy, Agenesis of co... OMIM:300952
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Thick eyebrow, Low posterior hairline OMIM:245600
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Blue irides, Melanocytic nevus OMIM:101800
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Synophrys, Hydrocephalus, Low anterior hairline, High anterior hairline, Thi... OMIM:619512
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Holoprosencephaly, Ventriculomegaly OMIM:612651
Raine Syndrome
Neonatal death, Hydrocephalus, Highly arched eyebrow OMIM:259775
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Cryptorc... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Cryptorc... ORPHA:353277
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Ventricular sep... OMIM:263520
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Alopecia, Spina bifida, Hydrocephalus, Cafe-au-lait spot, Fair hair, Hypopigmenta... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Alopecia, Spina bifida, Hydrocephalus, Cafe-au-lait spot, Fair hair, Hypopigmenta... ORPHA:363958
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Absent nipple OMIM:104350
Stromme Syndrome
Hydrocephalus, Stillbirth OMIM:243605
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Optic nerve compression, Optic atrophy, Hydrocephalus OMIM:612301
Fraser Syndrome 3
Hydrocephalus, Stillbirth OMIM:617667
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Dandy-Walker malformation, Absent ... OMIM:264090
Alzheimer Disease 3
Neurofibrillary tangles OMIM:607822
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Kabuki Syndrome
Highly arched eyebrow, Hydrocephalus, Long eyelashes, Cerebral cortical atrophy, Ventriculomegaly... ORPHA:2322
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Mend Syndrome
Hydrocephalus, Hypertonia, Spotty hypopigmentation, Dandy-Walker malformation OMIM:300960
Autosomal Recessive Malignant Osteopetrosis
Tremor, Hydrocephalus, Abnormality of hair texture ORPHA:667
Costello Syndrome
Deep-set nails, Curly hair, Ventriculomegaly, Thin nail, Concave nail, Hydrocephalus, Cerebral at... OMIM:218040
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Inguinal freckling, Lower limb dysmetria, Hydrocephalus, Axillary freckling, Cafe-au-lait spot, O... ORPHA:363700
Pallister-Hall Syndrome
Hypopituitarism, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Adrenocorti... ORPHA:672
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Agenesis of corpus... OMIM:618820
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Mend Syndrome
Hydrocephalus, Spotty hypopigmentation, Dandy-Walker malformation, Limb hypertonia ORPHA:401973
Knobloch Syndrome
Abnormal hair morphology, Occipital encephalocele, Hydrocephalus ORPHA:1571
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cor triatriatum, Ventricular septal defect, Dextrocardia, Anterior pituitary hypoplasia, Situs in... OMIM:619534
Hajdu-Cheney Syndrome
Short nail, Synophrys, Hydrocephalus, Hirsutism, Long eyelashes, Thick eyebrow OMIM:102500
Hajdu-Cheney Syndrome
Abnormal fingernail morphology, Synophrys, Hydrocephalus, Low anterior hairline, Coarse hair, Gen... ORPHA:955
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Dystonia, Hydrocephalus, Babinski sign, Hemiparesis, Tetraparesis, Limb dysto... OMIM:175780
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles ORPHA:1020
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Hydrocephalus, Ventriculomegaly ORPHA:457284
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Split Cord Malformation
Tufted hairs, Paraparesis, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Meningocele, Ce... ORPHA:573278
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Fontaine Progeroid Syndrome
Sparse scalp hair, Absent nipple, Synophrys, Hydrocephalus, Low anterior hairline, Low posterior ... OMIM:612289
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys,... OMIM:619841
Osteogenesis Imperfecta
Somatic sensory dysfunction, Ataxia, Hydrocephalus, Noncommunicating hydrocephalus, Paresthesia, ... ORPHA:666
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Optic nerve hypoplasia, Dysplastic corpus callosum, Patent ductus a... ORPHA:500150
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Hydrocephalus ORPHA:536467
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Achondroplasia
Hydrocephalus OMIM:100800
Norrie Disease
Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Abnormality of the diencephalon, Optic atrophy ORPHA:649
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus, Hirsutism OMIM:253200
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Hydrocephalus ORPHA:90652
Mohr Syndrome
Hydrocephalus OMIM:252100
Niemann-Pick Disease, Type C1
Neurofibrillary tangles OMIM:257220
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Ataxia, Action tremor, Tremor, Synophrys, Hydrocephalus, Pigmentary retinopath... ORPHA:3455
Brittle Cornea Syndrome
Gait disturbance, Abnormality of hair pigmentation ORPHA:90354
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Dextrocardia
Hydrocephalus ORPHA:1666
Mycophenolate Mofetil Embryopathy
Hypoplastic toenails, Hydrocephalus ORPHA:268249
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Hydrocephalus, Myelome... OMIM:305600
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Generalized hypopigmentation, Alopecia, Hydrocephalus, Cerebellar cortical atrophy OMIM:619321
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect... OMIM:607872
Nijmegen Breakage Syndrome
Glioma, Retinal pigment epithelial mottling, Progressive vitiligo, Neurodegeneration, Cafe-au-lai... OMIM:251260
Neurooculorenal Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Highly arched eyebrow OMIM:620305
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation OMIM:618367
Niemann-Pick Disease, Type C2
Neurofibrillary tangles OMIM:607625
Fanconi Anemia, Complementation Group D2
Abnormality of skin pigmentation, Hydrocephalus, Cafe-au-lait spot OMIM:227646
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Stillbirth, Hirsutism ORPHA:95699
Friedreich Ataxia 2
Abnormal medulla oblongata morphology, Muscular subvalvular aortic stenosis, Concentric hypertrop... OMIM:601992
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Coccidioidomycosis
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr... ORPHA:228123
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ventriculomegaly OMIM:618188
Trisomy 8P
Hydrocephalus, Heterochromia iridis, Dandy-Walker malformation, Low posterior hairline ORPHA:264450
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Cryptococcosis
Hydrocephalus, Cerebral cortical atrophy ORPHA:1546
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hydrocephalus, Holoprosencephaly ORPHA:2166
Fanconi Anemia
Spina bifida, Hydrocephalus, Hypopigmented skin patches, Abnormality of skin pigmentation, Multip... ORPHA:84
6Q Terminal Deletion Syndrome
Colpocephaly, Cerebellar hypoplasia ORPHA:75857
Fanconi Anemia, Complementation Group L
Hydrocephalus, Cafe-au-lait spot OMIM:614083
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Sparse lower eyelashes, Absent lower eyelashes OMIM:154400
Histiocytoid Cardiomyopathy
Hemiplegia, Hydrocephalus ORPHA:137675
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Pseudoaminopterin Syndrome
Sparse scalp hair, Hydrocephalus, Frontal upsweep of hair, Highly arched eyebrow ORPHA:221120
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Spasticity, Myoclonus, Ventriculomegaly OMIM:253280
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:300896
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Synophrys, Anonychia, Gait disturbance, Hydrocephalus ORPHA:3042
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:2462
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the nails ORPHA:163979
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Abnormal eyelash morphology, Hydrocephalus, Hypopigmented sk... ORPHA:2556
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Lymphangioleiomyomatosis
Abnormality of skin pigmentation, Ungual fibroma, Hydrocephalus ORPHA:538
Meckel Syndrome
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation ORPHA:564
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Subependymal giant-cell astrocytoma, Hypomelanotic macule, Subepe... ORPHA:805
Distal 22Q11.2 Microduplication Syndrome
Hypoplastic toenails, Hydrocephalus, Low posterior hairline ORPHA:261337
22Q11.2 Deletion Syndrome
Spina bifida, Hydrocephalus, Meningocele, Hypopigmented skin patches, Occipital myelomeningocele ORPHA:567
Fraser Syndrome 1
Encephalocele, Absent eyebrow, Absent eyelashes, Myelomeningocele, Hydrocephalus, Extension of ha... OMIM:219000
Lenz-Majewski Hyperostotic Dwarfism
Hyperconvex fingernails, Hydrocephalus, Hypoplastic fingernail ORPHA:2658
Yunis-Varon Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Neuronal loss in central nerv... ORPHA:3472
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic toenails, Hydrocephalus, Myelomeningocele, Aqueductal stenosis OMIM:306955
Campomelic Dysplasia
Hydrocephalus, Short nail, Spina bifida, Spinal dysraphism OMIM:114290
Coffin-Siris Syndrome 12
Sparse scalp hair, Highly arched eyebrow, Synophrys, Low anterior hairline, Noncommunicating hydr... OMIM:619325
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta ORPHA:2369
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Hydrocephalus ORPHA:1106
Primrose Syndrome
Sparse scalp hair, Ataxia, Absent facial hair, Synophrys, Neurodegeneration, Absent axillary hair... OMIM:259050
Kabuki Syndrome 1
Highly arched eyebrow, Sparse eyebrow, Hydrocephalus, Prominent eyelashes, Lateral ventricle dila... OMIM:147920
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Ventricular s... ORPHA:261552
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Hydrocephalus, Low posterior hairline, Hyperconvex fingernails, Ventriculo... OMIM:194190
Holoprosencephaly 9
Hydrocephalus, Holoprosencephaly OMIM:610829
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Stillbirth OMIM:208150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Abnormal pulm... ORPHA:261537
Peters Plus Syndrome
Hydrocephalus, Spina bifida occulta, Cerebral cortical atrophy, Ventriculomegaly ORPHA:709
Tetrasomy 9P
Pilomatrixoma, Hydrocephalus, Dandy-Walker malformation ORPHA:3310
Genitopatellar Syndrome
Ventricular septal defect, Cryptorchidism, Colpocephaly, Atrial septal defect, Agenesis of corpus... OMIM:606170
Peters-Plus Syndrome
Facial hypertrichosis, Hydrocephalus, Ventriculomegaly, Cerebral atrophy OMIM:261540
Otopalatodigital Syndrome, Type Ii
Widow's peak, Stillbirth, Hydrocephalus, Spina bifida OMIM:304120
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormality of retinal pigmentation ORPHA:580
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta OMIM:218600
Hydrolethalus Syndrome 1
Dandy-Walker malformation, Stillbirth, Anencephaly, Severe hydrocephalus OMIM:236680
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Frontal encephalocele, Stillbirth, Sparse hair, Cafe-au-lait spot OMIM:268300
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Short nail, Supernumerary nipple, Hypertrichosis OMIM:312870
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly OMIM:107480
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Vac14

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Vac14.

No publications found that use IMPC mice or data for Vac14.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Vac14tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Vac14tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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