Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kinesin family member 14
Synonyms:
N-3 kinesin,  D1Ertd367e

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Kif14 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 Kif14 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Kif14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Null Syndrome
Progressive spastic paraplegia, Peripheral demyelination, CNS hypomyelination, Inability to walk,... ORPHA:280234
Spinocerebellar Ataxia Type 4
Sensory axonal neuropathy, Impaired proprioception, Impaired vibratory sensation, Impaired tactil... ORPHA:98765
Optic Atrophy With Demyelinating Disease Of Cns
Optic neuritis, Peripheral demyelination, Ataxia, Hemiparesis, CNS demyelination, Optic atrophy OMIM:165200
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Peripheral demyelination, Spontaneous pain sensation, Segmental peri... ORPHA:2932
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating motor neuropathy, Symmetrical progressive peripheral demyelination, Progressive gai... ORPHA:208981
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Cerebellar atrophy, Decreas... OMIM:617672
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Decreased number of large peripheral myelinated nerve fibers, Cogwheel... ORPHA:497764
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Steppage gait, Axonal deg... OMIM:606483
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Distal sensory impairment, Onion bulb formation, Steppage gait OMIM:616039
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Distal sensory impairment, Onion bulb formation, Steppage gait OMIM:615185
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Frequent falls, Difficulty walking, Onion bulb formation, Steppage gait OMIM:618279
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Peripheral demyelination, Vocal cord paresis, Decreased number of large peripheral myelinated ner... OMIM:614895
Subacute Inflammatory Demyelinating Polyneuropathy
Positive Romberg sign, Tremor, Frequent falls, Somatic sensory dysfunction, Peripheral demyelinat... ORPHA:206594
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Agenesis of corpus callosum, Delayed closure of the anterior fontane... OMIM:618736
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onio... OMIM:180800
Autosomal Spastic Paraplegia Type 58
Microcephaly, Clonus, Tremor, Cerebellar atrophy, Frequent falls, Dysmetria, Peripheral demyelina... ORPHA:397946
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Cerebellar hypoplasia, Inability to walk, Ataxia, Hypoplasia of the brainste... OMIM:618174
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Myelin outfoldings, Clust... OMIM:607734
Intellectual Developmental Disorder, Autosomal Dominant 13
Plagiocephaly, Hypoplasia of the corpus callosum, Spastic tetraplegia, Cerebellar hypoplasia, Mic... OMIM:614563
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Onion bulb formation, Steppage gait, Distal sensory impairment, Peripheral ax... OMIM:615035
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Frequent falls, Chronic axonal neuropathy, Periphera... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... OMIM:607677
Insensitivity To Pain With Hyperplastic Myelinopathy
Pain insensitivity, Abnormal peripheral myelination, Impaired tactile sensation OMIM:147530
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone dystrophy, Dista... OMIM:311070
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Cerebellar hypoplasia, Inability to walk, Spastic paraplegia... OMIM:618572
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tetraparesis, Hypoplasia of the corpus callosum, Unsteady gait, Decreased number of peripheral my... ORPHA:2386
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Distal sensory impairment, Steppage gait, Decreased number of peripheral mye... OMIM:607731
Charcot-Marie-Tooth Disease Type 4G
Peripheral demyelination, Impaired vibratory sensation, Impaired tactile sensation, Impaired pain... ORPHA:99953
Craniotelencephalic Dysplasia
Craniosynostosis, Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Mic... OMIM:218670
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Decreased number of large peripheral myelinated nerve fibers, Onion bul... OMIM:608340
Spinocerebellar Ataxia Type 25
Spastic dysarthria, Impaired distal tactile sensation, Impaired pain sensation, Decreased number ... ORPHA:101111
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Peripheral demyelination, Decreased nerve conduction velocity, Gait ataxia,... OMIM:249900
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Spastic tetraplegia, Ataxia, Gray matter heterotopia, Microc... OMIM:611603
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Peripheral demyelination, Hypertrophic nerve changes, Myelin outfoldings, Onion bulb formation, S... OMIM:118200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:601098
Microlissencephaly
Cerebral dysmyelination, Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia... ORPHA:1083
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Frequent falls, Onion bulb formation, Decreased nerve conduction velocity, Distal se... OMIM:611228
Lissencephaly 1
Agyria, Spastic tetraparesis, Cerebellar hypoplasia, Gray matter heterotopia, Subcortical band he... OMIM:607432
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Onion bulb formation, Acute demyelinating polyneuropathy, Unsteady gait ORPHA:98916
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia OMIM:615268
Adult Krabbe Disease
Abnormal corpus callosum morphology, Hoffmann sign, Progressive spastic paraparesis, CNS demyelin... ORPHA:206448
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Peripheral hypomyelination, Unsteady gait, Decreased number of peripheral m... OMIM:609311
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Retinal dysplasia, Ataxia, Microcephaly, Microphthalmia, Hypoplasia of the... OMIM:615771
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Gait ataxia, Distal sensory impairment, Positive Romberg sign, Optic at... OMIM:258650
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Steppage gait, Decreased number of peripheral myelinated nerve fibers, Axon... OMIM:118210
Spinocerebellar Ataxia 25
Cerebellar atrophy, Abolished vibration sense, Impaired pain sensation, Ataxia, Decreased number ... OMIM:608703
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Myelin outfoldings,... OMIM:118220
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Cerebral atrophy, Hypoplasia of the corpus callosum, Caudate atrophy, Peripheral dem... OMIM:221770
Charcot-Marie-Tooth Disease Type 1F
Cervical spinal cord atrophy, Optic nerve hypoplasia, Positive Romberg sign, Somatic sensory dysf... ORPHA:101085
Sporadic Fetal Brain Disruption Sequence
Prominent occiput, Plagiocephaly, Microcephaly, Spasticity, Cerebral cortical atrophy ORPHA:1665
Spastic Ataxia-Corneal Dystrophy Syndrome
Spinocerebellar tract degeneration, Ataxia, Gait disturbance, Hemiplegia/hemiparesis, Aplasia/Hyp... ORPHA:2572
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Abnormal pyramidal sign, Dystonia, Ataxia, Leukodystrophy, Spasticity, He... OMIM:614561
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Microcephaly, Diffuse cerebral atrophy, Brachycephaly, Flat occiput, Morning myocl... ORPHA:2898
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Peripheral axonal degeneration, Cerebellar atrophy, Dysmetria, Frequent falls, Ha... OMIM:302800
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Vocal cord paralysis, Froment sign, Hand parest... OMIM:162500
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal tactile sensation, Onion bulb formation, Steppage gait, Impaired distal vibration... OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Onion bulb formation, Steppage gait, Decreased number of peripheral myelinated nerve fibe... OMIM:609260
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly, Spastic tetraparesis, Cerebellar atrophy, Microcephaly, Clonus, Cerebral cortical ... OMIM:617481
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Retinal degeneration, Ataxia, Gait ataxia, Microcephaly, Spasticity, Limb ata... OMIM:614322
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Iron accumulation in globus pallidus, Cerebellar vermis atrophy, Inability to... OMIM:619389
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Sensory ataxia, Oni... OMIM:145900
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spastic tetraplegia, Inability to walk, Optic nerve hypoplasia, Microcephaly, Spasticity, Chorea,... OMIM:617864
Spinocerebellar Ataxia 38
Cerebellar atrophy, Ataxia, Gait ataxia, Peripheral axonal neuropathy, Limb ataxia OMIM:615957
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Impaired proprioception, Attenuation of retinal blood vessels, Hyperint... OMIM:609033
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Distal sensory impairment, Peripheral demyelination, Decreased nerve conduction velocity, Gait di... ORPHA:99944
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Optic nerve ... OMIM:615181
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Intrauterine growth retardation, Spastic tetraplegia, Gray matter heterotopia, Subcortica... OMIM:615411
Craniosynostosis 6
Plagiocephaly, Cerebellar atrophy, Craniosynostosis, Abnormal corpus callosum morphology, Agenesi... OMIM:616602
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly, Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormal corpus callosum morphology, Spastic tetraparesis, Schizencephaly, Gray matter heterotopi... OMIM:604317
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Leukoencephalopathy, Periventricular l... OMIM:615889
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Progressive microcephaly, Ataxia, Short stature, Cerebral cortical atrophy, H... OMIM:617862
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination, Difficulty walking, Ataxia OMIM:616684
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Hy... ORPHA:250972
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Cerebellar atrophy, Abnormal pyramidal sign, Agenesis of corpus callo... OMIM:614833
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelinati... OMIM:605285
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cerebellar hypoplasia, Optic nerve hypoplasia, Microcephaly, Rigidity, Sp... ORPHA:163937
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Agenesis of corpus callosum, Lower limb spasticity,... ORPHA:401820
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Steppage gait, Decreased number of peripheral myelinated nerve fibers, Axon... OMIM:605588
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Steppage gait, Decreased ... OMIM:604563
Craniotelencephalic Dysplasia
Craniosynostosis, Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Micr... ORPHA:1528
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Limb ataxia,... OMIM:617018
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Axonal degeneration/... OMIM:607791
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Optic nerve hypoplasia, Ataxia OMIM:614306
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Agenesis of corpus callosum, Impaired vibration sensation in the l... OMIM:610245
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal sensory impairment, Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration OMIM:607736
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Kinetic tremor, Abnormality of the spinocerebellar tracts, Parkinsoni... ORPHA:98756
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Peripheral axonal neuropathy, Spasticity, Leukoencephalopathy, Babinski sign, Tremor OMIM:611105
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Tetraparesis, Progressive microcephaly, Periventricular nodular heterotopia, Periventricular hete... OMIM:608097
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tetraparesis, Dysplastic corpus callosum, Cerebellar atrophy, Dystonia, Inability to walk, Ataxia... OMIM:618276
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Ataxia, Gray matter heterotopia, Lissencephaly, Spasticity, ... OMIM:300067
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Motor stereotypy, Cerebellar hypoplasia, Optic nerve hypoplasia, Hypoplasia of the brainstem, Lis... ORPHA:300570
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic gait, Dysmetria, Cerebellar vermis atrophy, Falls, Decreased number of large peripheral m... OMIM:270550
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Ataxia, Tremor OMIM:213000
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Diffuse cerebral atrophy, Gait disturbance, Leukoencephalopathy, Babinski sig... OMIM:300660
Neuromyelitis Optica Spectrum Disorder
Optic neuritis, Somatic sensory dysfunction, Peripheral demyelination, Paraplegia, Myelitis ORPHA:71211
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Peripher... OMIM:608673
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Spastic tetraplegia, Cerebellar hypoplasia, Hypoplasia of the brainstem, Lissencephaly, Thick cer... OMIM:618677
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination, Abnormal autonomic nervous sys... DECIPHER:59
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Intention tremor, Lower limb spasticity, ... OMIM:616948
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ataxia, Microcephaly, Cortical dysplasia, Macrocephaly, Abno... OMIM:618709
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Spastic tetraplegia, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly,... OMIM:615412
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Ataxia, Steppage gait, Gait ataxia, Distal sensory impairment, Per... OMIM:618387
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Autonomic bladder dysfunction, Diffuse leukoencephalopathy, A... OMIM:169500
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Microcephaly, Spasticity, Hypoplasia of the corpus callosum, Dilation of ... OMIM:618890
Spastic Paraplegia 11, Autosomal Recessive
Hypoplasia of the corpus callosum, Spastic gait, Retinal degeneration, Agenesis of corpus callosu... OMIM:604360
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Chronic axonal neuropathy, Ataxia, Cerebral degeneration OMIM:260970
X-Linked Progressive Cerebellar Ataxia
Axonal loss, Dysmetria, Frequent falls, Spinocerebellar tract degeneration, Intention tremor, Spa... ORPHA:1175
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Dolichocephaly, Aplasia/Hypoplasia of the corpus callosum, Retinal dysplasia, Brac... ORPHA:272
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Cerebral atrophy, Spastic gait, Dilated third ventricle, Spastic paraplegia, Limb ... OMIM:617296
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal pyramidal sign, Type II lissencephaly, Cerebellar cyst, Dilated fourth ventricle, Cerebe... ORPHA:370959
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Diffuse cerebral atrophy, Babinski si... OMIM:615362
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Somatic sensory dysfunction, Decreased number of large peripheral myelinated nerve fibers, Steppa... OMIM:615376
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ne... OMIM:601455
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Peripheral demyelination, Ataxia, Axonal degene... OMIM:604168
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating sensory neuropathy, Spastic paraplegia, Onion bulb formation, Demyelinating motor n... OMIM:182815
Symmetrical Thalamic Calcifications
Cerebral calcification, Ataxia, Microcephaly, Failure to thrive, Spasticity, Abnormality of neuro... ORPHA:1314
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Somatic sensory dysfunction, Steppage gait, Decreased number of peripheral myelinated nerve fiber... OMIM:600882
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Progressive spastic paraplegia, Plagiocephaly, Abnormal CNS myelination, Hypoplasia of the corpus... ORPHA:521390
Developmental And Epileptic Encephalopathy 65
Plagiocephaly, Cerebellar atrophy, Cerebral atrophy, Microcephaly, Spasticity OMIM:618008
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Abnormal cerebral white matter morphology, Fasciculations, Ataxia, Gait... OMIM:607317
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Gray matter heterotopia,... OMIM:604213
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, CNS hypomyelination, Hypertrophic nerve changes, Axonal degenerat... OMIM:214400
Leukodystrophy, Hypomyelinating, 5
Intention tremor, Loss of ability to walk, Inability to walk, Cerebral white matter atrophy, Abno... OMIM:610532
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait OMIM:616410
Malan Overgrowth Syndrome
Plagiocephaly, Optic disc hypoplasia, Hypoplasia of the brainstem, Frontal bossing, Optic disc pa... ORPHA:420179
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Abnormal pyramidal sign, Action tremor, Parkinsonism, Cerebellar atrophy, Inten... ORPHA:98762
Chromosome 19P13.13 Deletion Syndrome
Optic nerve hypoplasia, Microcephaly, Frontal bossing, Chiari type I malformation, Optic atrophy OMIM:613638
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly, Clumsiness, Ataxia OMIM:615656
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Progressive microceph... ORPHA:521406
Tatton-Brown-Rahman Syndrome
Chiari type I malformation, Optic nerve hypoplasia, Encephalomalacia OMIM:615879
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia, Difficulty walking, Tremor ORPHA:423296
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Galloway-Mowat Syndrome 5
Peripheral demyelination, Ataxia, Microcephaly, Pachygyria, Spasticity OMIM:617731
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Metachromatic Leukodystrophy
Peripheral demyelination, Spastic tetraplegia, Ataxia, Decreased nerve conduction velocity, Tetra... OMIM:250100
Optic Atrophy 2
Babinski sign, Tremor, Optic atrophy, Dysdiadochokinesis OMIM:311050
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Hypoplasia of the corpus callo... OMIM:300423
Spinocerebellar Ataxia Type 20
Cerebral calcification, Kinetic tremor, Abnormal pyramidal sign, Cerebellar atrophy, Isometric tr... ORPHA:101110
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Optic nerve hypoplasia, Agenesis of cerebellar vermis, Hypoplasia of the corpus... ORPHA:228384
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Microcephaly, Leukodystrophy, Short statur... OMIM:612438
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Frequent falls, Cerebellar cyst, Gray matter heterotopia, Microcephaly, Pachy... ORPHA:370980
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Tremor ORPHA:217012
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, CNS hypomyelination, Lower limb spasticity, Ataxia, Tethered cord,... OMIM:615281
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, CNS hypomyelination, Ataxia, Leukodystrophy, Failure to thrive, Spasticity, H... OMIM:616494
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Progressive cerebellar ataxia, Impaired distal p... ORPHA:137898
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microphtha... OMIM:617914
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Decreased ... OMIM:604484
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity OMIM:608236
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Colpocephaly, Cerebellar hypoplasia, Midface retrusion, Microcephaly, Delayed CNS ... OMIM:618731
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Cerebellar atrophy, Resting tremor, Impaired vibratory sen... OMIM:617225
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Obesity, Ataxia, Unsteady gait, Microcephaly, Short stat... OMIM:614947
Krabbe Disease
Peripheral demyelination, Decreased nerve conduction velocity, Diffuse cerebral atrophy, Progress... OMIM:245200
Trichothiodystrophy 5, Nonphotosensitive
Progressive microcephaly, Cerebellar hypoplasia, Global brain atrophy, Optic nerve hypoplasia, Mi... OMIM:300953
Septooptic Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Optic disc hy... OMIM:182230
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Peripheral demyelination, Ataxia, CNS demyelination OMIM:200100
Autosomal Recessive Spastic Paraplegia Type 35
Spastic tetraparesis, Dysmetria, Frequent falls, Cerebellar atrophy, Iron accumulation in globus ... ORPHA:171629
Charcot-Marie-Tooth Disease Type 4A
Frequent falls, Chronic axonal neuropathy, Vocal cord paresis, Impaired distal tactile sensation,... ORPHA:99948
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormal caudate nucleus morphology, Age... ORPHA:300573
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Sensory axonal neuropathy, Gait ataxia, Limb ataxia, Positive Romb... OMIM:617770
Gluteal Muscles, Absence Of
Spina bifida occulta, Optic nerve hypoplasia OMIM:231970
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal ... ORPHA:101029
Periventricular Nodular Heterotopia 8
Microcephaly, Delayed myelination, Spasticity, Periventricular nodular heterotopia OMIM:618185
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Spastic gait, Optic nerve hypoplasia, Gait ataxia, Peripheral axonal neuropat... ORPHA:496790
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Global b... OMIM:610185
Craniosynostosis 4
Pansynostosis, Lambdoidal craniosynostosis, Coronal craniosynostosis, Sagittal craniosynostosis, ... OMIM:600775
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Inability to walk, Rigidity, Ga... OMIM:618090
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Progressive spastic paraplegia, Sensory axonal neuropathy, Impaired pain sensation, Spastic parap... ORPHA:139578
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Prominent occiput, Plagiocephaly, Dolichocephaly, Delayed CNS myelination, Thick corpus callosum,... OMIM:618672
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly, Inability to walk, Microcephaly, Spasticity, Abnormal CNS myelination, Hypoplasia ... OMIM:613457
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Agenesis of corpus callosum, Abnormal globus pallidus morphology, Microcephaly, De... OMIM:618603
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Dysdiadochokinesis, Cerebellar vermis atrophy, Diffuse cerebellar at... ORPHA:363710
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Optic disc hypopla... ORPHA:137902
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity, Microcephaly, Distal sensory impairmen... OMIM:615284
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Progressive cerebellar ataxia, Abnormal cerebellar peduncle morphology, Hypermyelinated retinal n... ORPHA:98
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar hypoplasia, Gait ataxia, Simplified g... OMIM:224050
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers,... OMIM:607706
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity, Hyp... OMIM:617916
Behr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, O... OMIM:210000
Intellectual Developmental Disorder, Autosomal Dominant 36
Plagiocephaly, Agenesis of corpus callosum, Inability to walk, Gait ataxia, Microcephaly, Delayed... OMIM:616362
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Intention tremor, Ataxia, Microcephaly, Leukodystrophy, Spasticity, Hypoplasia of the ... OMIM:616140
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Sensory axonal neuropathy, Frequent falls, Somatic sensory dysfunction, Hand tremor, Impaired vib... ORPHA:99947
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Spastic gait, Dysmetria, Lower limb spasticity, Spastic paraplegia, Ataxia, P... OMIM:610357
Spastic Paraplegia 2, X-Linked
Spastic gait, Dysmetria, Spinocerebellar tract degeneration, Spastic paraparesis, Lower limb spas... OMIM:312920
Dystonia 23
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... OMIM:614860
Neuroectodermal Melanolysosomal Disease
Cerebral cortical hemiatrophy, Cerebellar hypoplasia, Tremor, Ataxia, Abnormal cerebellar vermis ... ORPHA:33445
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Temporal cortical atrophy, Microcephaly, Delayed CNS myelination, Spasticity, Brac... OMIM:618862
Mitochondrial Complex I Deficiency, Nuclear Type 21
Abnormal cerebellum morphology, Ataxia, Leukodystrophy, Spasticity, Leukoencephalopathy, Babinski... OMIM:618242
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Cerebral Visual Impairment
Focal cortical dysplasia, Abnormal cerebral white matter morphology, Abnormal cerebral morphology... ORPHA:447788
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Dysmetria, Dystonia, Abnormal motor nerve conduction velocity, Spastic tetrap... OMIM:618404
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Cerebellar atrophy, Cerebellar hypoplasia, Unsteady gait, Spasticity, Limb ataxia, ... OMIM:615768
Charcot-Marie-Tooth Disease Type 2B1
Axonal loss, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fib... ORPHA:98856
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progress... OMIM:604326
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Lissencephaly 5
Porencephalic cyst, Spastic paraplegia, Gray matter heterotopia, Subcortical band heterotopia, Hy... OMIM:615191
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Cerebellar atrophy, Ataxia, Steppage gait, Distal sensory impairment, Periphera... OMIM:607250
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Tremor, Abnormal cerebellum morphology, Truncal obesity, Microcephaly,... OMIM:300957
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Cerebellar atrophy, CNS hypomyelination, Inability to walk, Cataplexy, Ataxia, Low... OMIM:617193
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia, Spastic paraplegia, Abnormal periventricular white matter morphology, Hyp... OMIM:615033
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Spastic Paraplegia 48, Autosomal Recessive
Retinopathy, Spastic gait, Dysmetria, Parkinsonism, Spastic paraplegia, Ataxia, Lower limb spasti... OMIM:613647
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Ataxia, Peripheral axonal neuropathy, Cerebral cortical atrophy, Difficulty w... OMIM:619425
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Failure to thrive, Optic disc pallor, Spasticity... OMIM:617954
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, Ataxia, Midface retrusion, CNS demyelination, Tremor OMIM:220111
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Cerebral atrophy, Global brain atrophy, Inability to walk, Microcephaly, Frontal b... OMIM:616801
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Dystonia, Delayed puberty, Hype... ORPHA:289494
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Unilambdoid synostosis, Agenesis of corpus callosum, Midface retrusion, Brachyceph... OMIM:618577
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Plagiocephaly, Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Dela... OMIM:618354
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Abnormal hippocampus morphology, Optic nerve hypoplasia, Optic di... ORPHA:401777
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Cerebral atrophy, Dystonia, Delayed peripheral myelination, Obesi... ORPHA:464282
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Ataxia, Brachycephaly ORPHA:404493
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Sensory axonal neuropathy, Progressive gait ataxia, Dysdiadochokin... OMIM:607458
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Frequent falls, Dysmetria, Agenesis of corpus callosum, Dystonia, Intention tremor, Unsteady gait... ORPHA:453521
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Abnormal cerebellum morphology, Spasticity, Clumsiness, Bab... OMIM:270500
Pelizaeus-Merzbacher Disease
Dystonia, Cerebellar vermis atrophy, Global brain atrophy, Spastic paraplegia, Microcephaly, Trem... OMIM:312080
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia, Cranial asymmetry, Speech apraxia ORPHA:137634
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Intellectual Developmental Disorder, Autosomal Dominant 58
Incoordination, Plagiocephaly, Microcephaly OMIM:618106
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Ata... OMIM:616204
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Ataxia, Abnormal cerebral white matter morphology, Tremor OMIM:618951
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic tetraparesis, Dysmetria, Cerebellar atrophy, Hypoplasia of the corpus callosum, Thin corp... OMIM:612319
Cebalid Syndrome
Plagiocephaly, Dolichocephaly, Platystencephaly, Midface retrusion, Turricephaly, Brachycephaly, ... OMIM:618774
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Abnormal cerebral white matter morpholog... ORPHA:248111
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly, Progressive microcephaly, Dilated fourth ventricle, Cerebellar hypoplasia, Optic n... OMIM:300749
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, CNS hypomyelination, Delayed puberty, Ataxia, Abnormal c... OMIM:607694
Childhood-Onset Spasticity With Hyperglycinemia
Spastic dysarthria, Spastic diplegia, Ataxia, Unsteady gait, Leukodystrophy, Progressive spastici... ORPHA:401866
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Abnormal auditory evoked potentials, Decreased motor nerve conduction vel... OMIM:601382
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Spinocerebellar tract degeneration, Cerebellar vermis atrophy, Spastic dysarthria, Global brain a... ORPHA:94124
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Choreoathetosis, Decreased number of large pe... OMIM:208920
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Abnormal pyramidal sign, Cerebral dysmyelination, Abnormal cerebellum morph... ORPHA:101070
Joubert Syndrome 40
Oculomotor apraxia, Optic nerve hypoplasia OMIM:619582
Multiple Sulfatase Deficiency
Cerebral atrophy, Cerebellar atrophy, Peripheral demyelination, Ataxia, Short stature, Spasticity... OMIM:272200
Kleefstra Syndrome 2
Microcephaly, Plagiocephaly, Midface retrusion OMIM:617768
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Short statu... OMIM:213200
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Gait ataxia, Microcephaly, Brachycephaly, Hypopl... ORPHA:320385
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia, Primary microcephaly, Simplified gyral pattern, Brachycephaly, Hypertonia OMIM:618828
Gómez-López-Hernández Syndrome
Impaired pain sensation, Ataxia, Abnormal cerebellum morphology, Midface retrusion, Turricephaly,... ORPHA:1532
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Agenesis of corpus callosum, Inability ... OMIM:617988
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... OMIM:616053
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Plagiocephaly, Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Ataxia, Microcephaly, Leuko... OMIM:615471
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Distal sensory impairment, Onion bulb formation, Steppage gait OMIM:614455
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal pyramidal sign, Sensory axonal neuropathy, Spastic paraplegia, Abnormal cerebellum morph... OMIM:256850
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Apraxia, Spastic parap... OMIM:615157
Bresek Syndrome
Plagiocephaly, Optic nerve hypoplasia, Aganglionic megacolon, Microcephaly, Microphthalmia ORPHA:85284
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Growth delay, Microcephaly, Spasticity, Tremor OMIM:278780
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Band Heterotopia
Agenesis of corpus callosum, Gray matter heterotopia, Subcortical band heterotopia, Spasticity, M... OMIM:600348
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Atrophy of the spinal cord, Microcephaly, Tremor, Cerebellar atrophy, Somatic sensory dysfunction... ORPHA:466768
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Plagiocephaly, Dolichocephaly, Brachycephaly OMIM:615433
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Focal T2 hypointense basal ganglia lesion,... ORPHA:139485
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:616187
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Spastic dysarthria, Cerebellar hypoplasia, Unste... ORPHA:314978
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Upper limb spasticity, Spastic dys... ORPHA:320391
Aicardi-Goutieres Syndrome 6
Cerebral calcification, Dystonia, Loss of ability to walk, Microcephaly, Leukodystrophy, Rigidity... OMIM:615010
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia ORPHA:65288
Gabriele-De Vries Syndrome
Dystonia, Intrauterine growth retardation, Delayed myelination, Waddling gait, Abnormal cerebral ... OMIM:617557
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia, Cortical dysplasia, Hypoplasia of t... OMIM:617201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Cerebellar hypoplasia, Optic nerve hypoplasia, Retinal detachment, Retinal dysplasia, Rem... OMIM:614643
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Inability to walk, Gai... OMIM:619383
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Action tremor, Frequent falls, Dysmetria, Hypoplasia of the corpus callosum, ... ORPHA:93952
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Sensory axonal neuropathy, Choreoathetosis, Intention tremor, Spastic parapares... OMIM:608804
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Spasticity, Gray matter heterotopia ORPHA:1084
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Plagiocephaly, Cerebellar atrophy, Motor stereotypy, Fasciculations, Cataplexy, Ataxia, Primary m... ORPHA:496641
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Cerebellar hypoplasia, Optic nerve hypoplasia, Microcephaly, Lissencephaly, Cor... ORPHA:468631
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Cerebellar vermis atrophy, Ataxia, Gait ... ORPHA:1170
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Gray matter heterotopia, Dysgyria, Hypoplasia of the brainstem, Type II li... ORPHA:352682
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Hypoplasia of the corpus callosum, Dyston... OMIM:614381
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Abnormal pyramidal sign, Hypertonia, Cerebellar atrophy, Caudate atrophy, Dysto... OMIM:617435
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Myoclonic spasms, Dystonia, Ataxia, Unsteady gai... ORPHA:79263
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Decreased number... ORPHA:320406
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebral atrophy, Cerebellar atrophy, Decreased body weight, Atrophy of the spinal cord, Sensory ... ORPHA:445062
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Microcephaly, Rigidity, Gait disturbance, Postnatal... ORPHA:391417
Hypermanganesemia With Dystonia 2
Opisthotonus, Dystonia, Hyperintensity of cerebral white matter on MRI, Gait disturbance, Microce... OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Cerebellar hypoplasia, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Ataxia, Unsteady ... OMIM:159550
Developmental And Epileptic Encephalopathy 84
Plagiocephaly, Opisthotonus, Microcephaly, Delayed CNS myelination, Spasticity, Chorea, Babinski ... OMIM:618792
Joubert Syndrome 1
Plagiocephaly, Chorioretinal coloboma, Retinal dystrophy, Hemifacial spasm, Occipital myelomening... OMIM:213300
Mitochondrial Complex I Deficiency, Nuclear Type 15
Peripheral demyelination, Optic atrophy, Spastic tetraplegia OMIM:618237
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia, Lower limb spasticity, Frontal bossing, Tics, Delayed myelination, Abnorm... ORPHA:363686
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Diffuse cerebral atrophy, Del... ORPHA:330050
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Cerebellar dysplasia, Motor stereotypy, Cerebellar hypoplasia, Microcephaly, Hypop... ORPHA:500159
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Microcephaly, Simplified gyral pattern, Periventricular white matter hyperi... OMIM:619470
Chromosome 2P16.1-P15 Deletion Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microcephaly, Spasti... OMIM:612513
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Decreased body weight, Agenesis of corpus callosum, Intrauterine growth re... ORPHA:255138
19P13.13 Microdeletion Syndrome
Syringomyelia, Dolichocephaly, Hypoplasia of the frontal lobes, Optic nerve hypoplasia, Corpus ca... ORPHA:357001
Autosomal Dominant Spastic Paraplegia Type 8
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Impaired vibration sensation... ORPHA:100989
Ritscher-Schinzel Syndrome 4
Plagiocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Athetosis, Ataxia, Dysgenesis ... OMIM:619435
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Cerebellar hypoplasia, Inability to walk, Tremor, Ataxia, Microcephaly, Failure to thrive, Delaye... OMIM:619556
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Dilated fourth ventricle, Retrocerebellar... OMIM:614831
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Tics, Frontal bossing OMIM:619264
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Microcephaly, Plagiocephaly, Hypopigmentation of the fundus, Abnormality of the optic nerve ORPHA:77300
Polyglucosan Body Neuropathy, Adult Form
Tetraparesis, Orthostatic hypotension, Spastic paraplegia, Paresthesia, Distal sensory impairment... OMIM:263570
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Plagiocephaly, Unsteady gait OMIM:615516
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxi... ORPHA:98763
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Chiari malformation, Microceph... OMIM:609053
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Abnormal corpus callosum morphology, Dolichocephaly, Motor stereotypy, Cavum septu... ORPHA:457279
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... OMIM:617633
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased amplitude of sensory acti... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Distal sensory impairment, Decrea... OMIM:607831
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Bilateral microphthalmos, Optic nerve hypoplasia, Brachyturricephaly OMIM:607597
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Cerebral atrophy, Spastic gait, Dysmetria, Spastic paraplegia, Gait ataxia, Microcephaly, Brachyc... OMIM:615031
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Microcephaly, Failure to thrive, Abnormal CNS myelination, Hypoplasia of the ... ORPHA:477673
Combined Oxidative Phosphorylation Defect Type 7
Abnormal pyramidal sign, Spastic paraparesis, Inability to walk, Ataxia, Decreased number of peri... ORPHA:254930
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Delayed CNS myelination, Cerebral cortical atrophy, Spasticity, Hypoplasia of the corpus ... OMIM:300983
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Decreased body weight, Progressive microcephaly, Athetosis, Ataxia, Demyelina... OMIM:614559
Hemimegalencephaly
Focal cortical dysplasia, Hyperintensity of cerebral white matter on MRI, Gray matter heterotopia... ORPHA:99802
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Ataxia, Gait ataxia, Chorea, Cachexia, Bab... OMIM:618093
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Ataxia, Brachycephaly, Frontal bossing OMIM:616789
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Plagiocephaly, Ataxia, Poor coordination, Midface retrusion, Frontal bossing, Spasticity, Brachyc... OMIM:618430
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Leukodystrophy, Hypomyelinating, 15
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Intention tremor, Inabil... OMIM:617951
Tremor-Ataxia-Central Hypomyelination Syndrome
Dystonia, Cerebellar hypoplasia, Impaired vibration sensation in the lower limbs, Impaired distal... ORPHA:447896
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia,... OMIM:261640
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Optic nerve hy... ORPHA:3157
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysarthria, Spastic parapleg... ORPHA:251282
Dihydropyrimidinase Deficiency
Plagiocephaly, Abnormal pyramidal sign, Extrapyramidal dyskinesia, Abnormal cerebral white matter... OMIM:222748
Myopathy With Extrapyramidal Signs
Cerebellar dysplasia, Frequent falls, Dystonia, Choreoathetosis, Perisylvian polymicrogyria, Atax... OMIM:615673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Cerebellar hypoplasia, Hypoplasia of the brainstem, Short stature, Pachygyria, Abnormal periventr... OMIM:608840
Peho Syndrome
Cerebellar atrophy, Progressive microcephaly, Peripheral dysmyelination, Pachygyria, Hypoplasia o... OMIM:260565
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Hypoplasia of the brainstem, Failure to thrive, Thin corpus callosum, Myoclonus, Tremor OMIM:619651
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Cerebral atrophy, Peripheral demyelination, Spastic tetraplegia, Spastic... OMIM:609136
Spinocerebellar Ataxia 1
Olivopontocerebellar atrophy, Spinocerebellar atrophy, Progressive cerebellar ataxia, Abnormality... OMIM:164400
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Myoclonus,... OMIM:615924
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebral atrophy, Cerebellar atrophy, Action tremor, Sensory axonal neuropathy, Shuffling gait, B... ORPHA:254886
Coffin-Siris Syndrome 6
Plagiocephaly, Wormian bones, Frontal bossing, Tics, Periventricular leukomalacia OMIM:617808
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Gait disturbance, Rigid... OMIM:213600
Autosomal Dominant Spastic Paraplegia Type 19
Progressive spastic paraplegia, Spastic gait, Impaired proprioception, Lower limb spasticity, Imp... ORPHA:100999
Fg Syndrome Type 1
Prominent occiput, Plagiocephaly, Small pituitary gland, Craniosynostosis, Aplasia/Hypoplasia of ... ORPHA:93932
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Atrophy of the spinal cord, Lower limb spasticity, Spastic paraplegia, Gait a... ORPHA:139480
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Maternal Hyperthermia-Induced Birth Defects
Intrauterine growth retardation, Microcephaly, Short stature, Abnormality of neuronal migration, ... ORPHA:2216
Cln5 Disease
Cerebellar atrophy, Dysmetria, Inability to walk, Poor gross motor coordination, Ataxia, Unsteady... ORPHA:228360
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Microcephaly, Intrauterine growth retardation, Abnormality of neuronal mi... ORPHA:1980
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Dysmetria, Cerebellar atrophy, Intention tremor, Ataxia, Steppage gait, Gait ataxia, ... OMIM:616505
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum, Onion bulb formation, Decreased sensory nerve conduction velocity, A... OMIM:218000
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Cerebellar vermis atrophy, Diffuse cerebellar atrophy, Gait ataxia, ... OMIM:117360
Spinocerebellar Ataxia, Autosomal Recessive 31
Cerebral atrophy, Dystonia, Choreoathetosis, Cerebellar hypoplasia, Ataxia, Growth delay, Posteri... OMIM:619422
Glutaric Acidemia I
Opisthotonus, Choreoathetosis, Dystonia, Failure to thrive, Rigidity, Symmetrical progressive per... OMIM:231670
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Agenesis of corpus callosum, Cerebellar hypoplasia, Global brain atrophy, Optic... OMIM:301056
Craniofrontonasal Dysplasia
Plagiocephaly, Craniosynostosis, Microcephaly, Frontal bossing, Brachycephaly, Hypoplasia of the ... ORPHA:1520
Cardiofaciocutaneous Syndrome 4
Cerebellar hypoplasia, Decreased response to growth hormone stimulation test, Optic nerve hypopla... OMIM:615280
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Frequent falls, Hand tremor, Chronic axonal neuropathy, Impaired distal tactile sensation, Decrea... OMIM:162400
Autosomal Dominant Spastic Paraplegia Type 37
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Impaired vibration sensation... ORPHA:171612
6Q25 Microdeletion Syndrome
Microcephaly, Plagiocephaly, Agenesis of corpus callosum ORPHA:251056
Hyperphenylalaninemia, Bh4-Deficient, C
Cerebral calcification, Dystonia, Choreoathetosis, Tremor, Microcephaly, Myoclonus, Hypertonia OMIM:261630
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal caudate nucleus morphology, Dystonia, Bradykinesia, Postural tremor, Rigidity, Diffuse c... ORPHA:314632
Pentasomy X
Microcephaly, Plagiocephaly ORPHA:11
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Vocal cord paralysis, Axonal degeneration, Decreased number of peripheral myel... OMIM:615490
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Substantia nigra gliosis, Rigidity, Gait ... OMIM:600116
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Somatic sensory dysfunction, Peripheral dysmyelination, Decreased n... ORPHA:101082
White-Sutton Syndrome
Cerebral atrophy, Wormian bones, Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Micro... OMIM:616364
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tr... OMIM:619028
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Plagiocephaly, Spastic paraparesis, Ataxia, Midface retrusion, Brachycephaly, Bil... ORPHA:369891
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Cerebral atrophy, Choreoathetosis, Hypoplasia of the cor... OMIM:618877
Tangier Disease
Peripheral demyelination, Impaired pain sensation, Impaired temperature sensation, Peripheral axo... OMIM:205400
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Apraxia, Cerebellar hypoplasia, Inability to walk, Gait ataxia, Sp... OMIM:617810
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Dystonia, Ataxia, Gait disturbance, Gait ... OMIM:617145
Hydranencephaly
Atrophic pituitary gland, Opisthotonus, Dysgenesis of the thalamus, Hypoplastic hippocampus, Opti... ORPHA:2177
Spinocerebellar Ataxia 7
Dysmetria, Olivopontocerebellar atrophy, Progressive cerebellar ataxia, Spasticity, Chorea, Babin... OMIM:164500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Cerebellar dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hyp... OMIM:236670
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... ORPHA:329284
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Sensory axonal neuropathy, Akinesia, Gait ataxia, Limb ataxia, G... ORPHA:98764
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Limb hypertonia, Microcephaly, Lissencephaly, Pa... OMIM:616212
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebellar hypoplasia, Confluent hyperintensity of cerebral white matter on MRI, Inability to wal... ORPHA:280210
Linear Nevus Sebaceus Syndrome
Prominent occiput, Plagiocephaly, Biparietal narrowing, Cerebral calcification, Aplasia/Hypoplasi... ORPHA:2612
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Trigeminal Neuralgia
Somatic sensory dysfunction, Peripheral demyelination, Paresthesia, Cranial nerve compression, CN... ORPHA:221091
Chiari Malformation Type Ii
Myelomeningocele, Opisthotonus, Agenesis of corpus callosum, Syringomyelia, Chiari malformation, ... OMIM:207950
2P15P16.1 Microdeletion Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia, Lower limb spasticity, Microcephaly, Brachycephaly... ORPHA:261349
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Abnormal autonomic nervous system physiology, ... OMIM:252320
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Impaired vibration sensation... ORPHA:171863
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Leukoencephalopathy With Ataxia
Optic neuropathy, Abnormal chorioretinal morphology, Gait ataxia, Limb ataxia, Leukoencephalopathy OMIM:615651
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:612016
Autosomal Dominant Spastic Paraplegia Type 38
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Impaired vibration sensation... ORPHA:171617
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Decreased sensory nerve conduction velocity, Decreased motor... OMIM:603472
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Spastic paraparesis, Inability to walk, Demyelinating peripheral neu... ORPHA:101077
3-Hydroxyisobutyric Aciduria
Microcephaly, Failure to thrive, Abnormality of neuronal migration, Congenital intracerebral calc... OMIM:236795
Summitt Syndrome
Plagiocephaly, Prominent metopic ridge, Craniosynostosis ORPHA:3210
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Aganglionic megacolon, Ataxia, Fusio... ORPHA:59315
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Pontocerebellar Hypoplasia, Type 3
Cerebral atrophy, Cerebellar atrophy, Progressive microcephaly, Cerebellar hypoplasia, Hypoplasia... OMIM:608027
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary movements, Stereotyp... ORPHA:3095
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Cerebellar vermis atrophy, Relative macrocephaly, Gait ataxia, Simplified gyra... OMIM:300354
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Abnormal corpus callosum morphology, Involuntary movements, Limb hypertonia, At... ORPHA:442835
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Intention tremor, Chorioretinal dystrophy, Ataxia, Spinocerebellar atrophy, G... OMIM:215470
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Abnormal sensory nerve conduction velocity, Impaired vibration sensation... ORPHA:88628
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Ataxia, Microcephaly, Peripheral axonal neuropat... ORPHA:401768
X-Linked Cerebral Adrenoleukodystrophy
Spastic tetraparesis, Dysmetria, Diffuse demyelination of the cerebral white matter, Apraxia, Glo... ORPHA:139396
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Peripheral axonal neuropathy, Distal sensory impairment, Hypoplasia of the corpus callosum, Tremor OMIM:616668
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Macrocephaly, Tremor, Gait disturbance OMIM:611808
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Retinal dystrophy, Cerebellar hypoplasia, Inability to walk, Microcephaly, ... OMIM:613155
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Peripheral demyelination, Intrauterine growth retardation, Small fo... OMIM:616733
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface retrusion OMIM:602849
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait dist... OMIM:612020
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Fasciculations, Scaphocephaly ORPHA:1143
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Diffuse axonal swelling, ... OMIM:602433
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Ataxia, Gait ataxia, Distal sensory impairment, Spasticity, T... OMIM:616719
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Cerebellar atrophy, Ataxia, Unsteady gait, Loss of Purkinj... OMIM:616795
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Spastic paraparesis, Lower limb spasticity, Onion bulb formation, Decreased sen... ORPHA:320375
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Cerebral atrophy, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Peripheral de... OMIM:252160
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, CNS demyelination, Abnormali... ORPHA:99
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Cerebellar hypoplasia, Microcephaly, Prominent metopic ridge, Hypertonia OMIM:619188
Spinocerebellar Ataxia Type 17
Abnormal pyramidal sign, Parkinsonism, Cerebellar atrophy, Dystonia, Generalized cerebral atrophy... ORPHA:98759
Juvenile Amyotrophic Lateral Sclerosis
Opisthotonus, Dystonia, Microcephaly, Clonus, Axial dystonia, Head titubation, Tip-toe gait, Amyo... ORPHA:300605
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Cerebellar hypoplasia, Pontocerebellar... OMIM:618060
Intellectual Disability-Strabismus Syndrome
Plagiocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Diffuse demyelinat... ORPHA:363528
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Anophthalmia, Agenesis of corpus callosum, Spastic tetraplegia, Anterior ... OMIM:206900
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Gray matter heterotopia, Abnorma... OMIM:615960
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... ORPHA:284324
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Cerebellar atrophy, Agenesis of corpus callosum, Intrauterine growth reta... ORPHA:89844
Hereditary Methemoglobinemia
Cerebellar atrophy, Spastic tetraplegia, Small for gestational age, Global brain atrophy, Athetos... ORPHA:621
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Aniridia ORPHA:1068
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Frequent falls, Abnormality of the optic nerve, Vocal cord paresis, Impaired ... ORPHA:99949
Squalene Synthase Deficiency
Polymicrogyria, Optic nerve hypoplasia, Hypoplasia of the corpus callosum OMIM:618156
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Cerebellar hypoplasia, Midface retrusion, Microcephaly, Brachycephaly, Hypoplasia ... ORPHA:261652
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Cerebellar dysplasia, Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus call... OMIM:617822
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Short stature, Rigidity, Chiari type I malformation, Tremor OMIM:617836
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Apraxia, Bradykinesia, Gait ataxia, Tr... OMIM:137440
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Delayed myelination, Hypoplas... ORPHA:457284
Hyperphosphatasia With Mental Retardation Syndrome 1
Plagiocephaly, Athetosis, Aganglionic megacolon, Midface retrusion, Cerebral cortical atrophy, De... OMIM:239300
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Chiari malformation, Frontal bossing, Thin corpus callosum, Hypoplasia of the pons OMIM:619293
Neuroferritinopathy
Dystonia, Focal dystonia, Abnormal caudate nucleus morphology, Iron accumulation in globus pallid... ORPHA:157846
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Abnormal cerebral white matter morphology, Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Carey-Fineman-Ziter Syndrome 1
Microcephaly, Plagiocephaly, Facial palsy, Hypoplasia of the brainstem OMIM:254940
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Delayed CNS myelination OMIM:618821
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Microcephaly, Plagiocephaly OMIM:618089
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Optic atrophy, Brachycephaly, Facial palsy, Thickened calvaria ORPHA:178377
9Q33.3Q34.11 Microdeletion Syndrome
Plagiocephaly, Spastic tetraparesis, Cerebellar vermis atrophy, Inability to walk, Microcephaly, ... ORPHA:495818
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Spastic tetraplegia, Cerebellar hypoplasia, Periventricular heteroto... OMIM:618476
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Inability to walk, Limb... ORPHA:2590
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Motor stereotypy, Overweight, Microcephaly, Decreased response to growth ho... ORPHA:457240
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Fasciculations, Inability to walk, Impaired distal vi... ORPHA:276435
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Aplasia/Hypoplasia involving the central nervous system, Ataxia, Microceph... OMIM:278760
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Plagiocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Midface retrusion, Microcephal... OMIM:619512
16Q24.3 Microdeletion Syndrome
Biparietal narrowing, Colpocephaly, Optic nerve hypoplasia, Frontal bossing, Hypoplasia of the co... ORPHA:261250
Hyperphosphatasia-Intellectual Disability Syndrome
Plagiocephaly, Aganglionic megacolon, Ataxia, Abnormal parietal bone morphology, Brachycephaly, G... ORPHA:247262
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebell... OMIM:617751
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Parkinsonism, Abnormal lower motor neuron morphology, Dystonia, Oromandibular... OMIM:614298
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Spastic tetraplegia, Hyperesthesia, Microcephaly, Frontal bossing, Hypoplasia of t... ORPHA:371364
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Impaired proprioception, Hyperintensity of cerebral wh... ORPHA:101
Lessel-Kreienkamp Syndrome
Wide cranial sutures, Plagiocephaly, Scaphocephaly, Frontal bossing OMIM:619149
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Dysmetria, Tremor, Abnormal cerebellum morphology, Gait ataxia, Microcephaly,... OMIM:618056
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Impaired ... OMIM:128230
Microphthalmia, Isolated 8
Microphthalmia, Optic nerve hypoplasia, Retinal detachment OMIM:615113
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Hypopigmentation of the fundus, Retinal detachment, Anterior plag... ORPHA:163649
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... ORPHA:71517
Pancreatic And Cerebellar Agenesis
Cerebellar hypoplasia, Microcephaly, Cerebellar agenesis, Optic nerve hypoplasia OMIM:609069
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Craniosynostosis, Abnormality of retinal pigmentation, Microcephaly, Brachycephaly ORPHA:2163
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cerebral atrophy, Atrophy of the spinal cord, Peripheral demyelination, Intrauterine growth retar... ORPHA:79282
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly ORPHA:94066
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Cerebral cortical hemiatrophy, Dystonia, Bradykinesia, Hemiparesis, Dilation of lat... ORPHA:306669
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Ataxia, Tremor OMIM:618637
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Growth delay, Microcephaly, Spasticity, Oculomotor apraxia, Tr... OMIM:612716
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Biparietal narrowing, Intrauterine growth retardation, Optic atrophy, Microcephaly, Short stature... ORPHA:2518
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Resting tremor, Parkinsonism, Intention tremor, Bra... OMIM:300623
16P13.2 Microdeletion Syndrome
Plagiocephaly, Hypoplasia of the corpus callosum, Dilated third ventricle, Cerebral white matter ... ORPHA:500055
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Craniosynostosis OMIM:618265
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Dystonia, Choreoathetosis, Ataxia, Tremor OMIM:612126
Secondary Syringomyelia
Somatic sensory dysfunction, Syringomyelia, CNS demyelination, Hyperintensity of MRI T2 signal of... ORPHA:99857
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Short stature, Cerebral cortical atrophy, Gait disturbance, Aplasia/Hypoplasia of the cer... ORPHA:1192
Aicardi Syndrome
Plagiocephaly, Chorioretinal coloboma, Abnormality of retinal pigmentation, Retinal detachment, M... ORPHA:50
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Parkinsonism, Resting tremor, Shuffling gait, Choreoathetosis, Apraxia, Spastic tet... OMIM:300055
Superficial Siderosis
Abnormal corpus callosum morphology, Atrophy of the spinal cord, Cerebellar atrophy, Dysmetria, F... ORPHA:247245
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
6Q Terminal Deletion Syndrome
Plagiocephaly, Dysmetria, Colpocephaly, Dolichocephaly, Cerebellar hypoplasia, Gait ataxia, Abnor... ORPHA:75857
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Skull asymmetry, Craniosynostosis, Rhombencephalosynapsis, Cerebellar vermis hypop... OMIM:601853
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Degeneration of anterior horn cells, Tongue fasciculations, Facia... OMIM:159950
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Periventricular nodular heterotopia, Blepharospasm, Abnormal hippocampus morp... ORPHA:352582
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Dilated third ventricle, Bradykinesia, ... OMIM:619725
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy of the spinal cord, Action tremor, Aplasia/Hypoplasia of the corpus callosum, Hyperintens... ORPHA:99027
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Gait disturbance, Tremor ORPHA:101075
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Retinal dystrophy, Dilated fourth ventricle, Cerebellar cyst, Inferior cere... ORPHA:370022
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Axonal loss, Cerebellar atrophy, Ataxia, Abnormal autonomic nervous system physiology, Gait ataxi... OMIM:614575
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly, Speech apraxia, Recurrent hand flapping, Microcephaly, Torticollis, Tremor OMIM:619680
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Parkinsonism, Impaired vibratory sensation, Dilated fourth ventricle, S... OMIM:183090
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Action tremor, Parkinsonism, Dystonia, Global brain atrophy, Tremor, Ataxia, ... OMIM:619738
Congenital Disorder Of Glycosylation, Type Ie
Patent ductus arteriosus, Pontocerebellar atrophy, Ataxia, Failure to thrive, Secondary microceph... OMIM:608799
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Cerebral atrophy, Spastic tetraparesis, Myoclonic spasms, Opisthotonus, Spastic tetr... OMIM:252150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5