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
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, O... ORPHA:280234
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:614895
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... OMIM:601098
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P... OMIM:620378
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:616039
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Decreased compound muscle action potential amplitude, Impaired distal vi... OMIM:618279
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Peripheral demyelination, Inability to walk, ... OMIM:617672
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... ORPHA:497764
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... OMIM:614877
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi... OMIM:606483
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ... OMIM:615185
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:180800
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Demyelinating motor neuropathy, Tremor, Motor conducti... ORPHA:206594
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Microcephaly... OMIM:619742
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Imp... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... OMIM:607677
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607734
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons,... OMIM:618736
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ... OMIM:311070
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista... OMIM:607731
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... ORPHA:101111
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic a... OMIM:615035
Autosomal Spastic Paraplegia Type 58
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... ORPHA:397946
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... OMIM:214400
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Decreased motor nerve cond... OMIM:609311
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Waddling gait, Peripheral axonal neuropathy, Cerebellar vermis hypoplasia, Microcephaly, Spastic ... OMIM:614563
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop... ORPHA:99953
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118200
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Spinocerebellar ... ORPHA:2572
Lissencephaly 3
Cerebellar vermis hypoplasia, Agyria, Ataxia, Periventricular laminar heterotopia, Microcephaly, ... OMIM:611603
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu... OMIM:607250
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio... OMIM:610100
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Optic nerve hypoplasia, Dysmetria, Gait ataxia OMIM:614306
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609260
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118220
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Craniosynostosis, Cerebellar hypoplasia, Microphthalmia, Agenesis of corp... OMIM:218670
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... ORPHA:2386
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Demyelinating motor neuropathy, Impaired proprioception, Han... ORPHA:101085
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo... OMIM:162500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Basal ganglia calcification, Babinski sign, Leukoencephalopathy, Cerebral atroph... OMIM:221770
Posterior Column Ataxia With Retinitis Pigmentosa
Hyperintensity of MRI T2 signal of the spinal cord, Broad-based gait, Bone spicule pigmentation o... OMIM:609033
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Short stature, Microcephaly, Inability to walk, Spastic paraplegia, Optic atrophy, Cerebellar hyp... OMIM:618572
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... OMIM:249900
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Delayed CNS myelination, Clonus, Spastic tetraparesis, Microcephaly, Inabilit... OMIM:617481
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... OMIM:607706
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Plagiocephaly, Agenesis of corpus callosum ORPHA:459074
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination, Distal sensory i... ORPHA:99944
Craniosynostosis 6
Cerebellar atrophy, Bicoronal synostosis, Turricephaly, Craniosynostosis, Microcephaly, Parietal ... OMIM:616602
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Clonus, Spastic tetraparesis, Microcephaly, Inability to walk, Delayed myelin... ORPHA:544469
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Peripheral demyelination, Difficulty walking OMIM:616684
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... OMIM:617018
Microlissencephaly
Cerebellar atrophy, Thick cerebral cortex, Subcortical heterotopia, Cerebral dysmyelination, Micr... ORPHA:1083
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Dystonia, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus cal... OMIM:618276
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:605588
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r... OMIM:607791
Craniotelencephalic Dysplasia
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Optic atrophy, Cerebellar... ORPHA:1528
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment OMIM:607736
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... OMIM:302800
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Abnormal medulla obl... ORPHA:206448
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Steppage... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Ag... ORPHA:250972
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, De... OMIM:270550
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly, Morning myocl... ORPHA:2898
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Peripheral demyelination, ... DECIPHER:59
Lissencephaly, X-Linked, 1
Ataxia, Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygy... OMIM:300067
Lissencephaly 1
Spastic tetraparesis, Subcortical band heterotopia, Abnormal cerebral white matter morphology, Hy... OMIM:607432
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Paraplegia, Optic neuritis, Peripheral demyelination, Myelitis ORPHA:71211
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Optic Atrophy 11
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Microcephaly, Gait apraxia, Optic atroph... OMIM:617302
Sporadic Fetal Brain Disruption Sequence
Microcephaly, Prominent occiput, Plagiocephaly, Spasticity, Cerebral cortical atrophy ORPHA:1665
X-Linked Progressive Cerebellar Ataxia
Unsteady gait, Babinski sign, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Axonal loss... ORPHA:1175
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... OMIM:605285
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Spastic gait, ... ORPHA:401820
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Microcephaly, Babinski sign, Optic atrophy, Li... OMIM:614322
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:618184
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Impaired d... OMIM:604360
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large... OMIM:615376
X-Linked Intellectual Disability, Najm Type
Optic nerve hypoplasia, Microcephaly, Rigidity, Optic atrophy, Gait disturbance, Cerebellar hypop... ORPHA:163937
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Ataxia, Tremor, Abnormal pyramidal sign, Leukoencephalopathy, Gait distur... OMIM:614561
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Microcephaly, Tremor, Babi... OMIM:607317
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilatation, Hypertonia, Hypoplasia of the... OMIM:618890
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Abnormal py... OMIM:614833
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... OMIM:182815
Developmental And Epileptic Encephalopathy 1
Delayed CNS myelination, Spastic tetraparesis, Microcephaly, Abnormal pyramidal sign, Choreoathet... OMIM:308350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hypopla... OMIM:615181
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Microcephaly, Cortical dysplasia, Subcortical band heterotopia, Spastic tetraplegia, Gray... OMIM:615411
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Cer... OMIM:604213
Spastic Paraplegia 2, X-Linked
Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Optic atrophy, Spastic para... OMIM:312920
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Segmental peripheral demyeli... OMIM:601455
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Spinocerebellar Ataxia Type 2
Cerebral white matter atrophy, Abnormal substantia nigra morphology, Postural tremor, Abnormal co... ORPHA:98756
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity ORPHA:217012
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl... ORPHA:171680
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Frontal bossing, Delayed CNS myelination, Partial agenesis of the corpus callosum, Optic nerve dy... OMIM:617296
Band Heterotopia
Plagiocephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Spasticity OMIM:600348
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Malan Overgrowth Syndrome
Optic disc pallor, Frontal bossing, Optic disc hypoplasia, Scaphocephaly, Plagiocephaly, Lateral ... ORPHA:420179
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Retinal detachment, Optic nerve h... ORPHA:370959
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Microcephaly, Periventricular heterotopia, Tetraparesis, Hypoplasia of the corpus callosum, Periv... OMIM:608097
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Chorea, Axonal... OMIM:604168
Periventricular Nodular Heterotopia 8
Delayed CNS myelination, Reduced cerebral white matter volume, Spasticity, Periventricular nodula... OMIM:618185
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morpholo... OMIM:169500
Abetalipoproteinemia
Ataxia, CNS demyelination, Retinopathy, Peripheral demyelination, Retinal degeneration OMIM:200100
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Brachycephaly, Aplasia/Hypoplasia of the corpus callosum, Plagiocephaly, Gait dist... ORPHA:272
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic par... OMIM:614487
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Inability to walk, Chorea, Sp... OMIM:617864
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... ORPHA:99947
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Impa... ORPHA:137898
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia, Optic atrophy, Gait ata... ORPHA:496790
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Imp... ORPHA:99948
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... ORPHA:300573
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Spinocere... OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Delayed CNS myelination, Microcephaly, Plagiocephaly, Colpocephaly, Cerebellar hypoplasia, Midfac... OMIM:618731
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... OMIM:604484
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy... ORPHA:101029
Chromosome 19P13.13 Deletion Syndrome
Frontal bossing, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Chiari type I malformation OMIM:613638
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar ver... OMIM:615957
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly, Abnormal CNS myelination, Hypoplasia of the corpus callosum, Progressive spastic p... ORPHA:521390
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol... OMIM:256850
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg... OMIM:610357
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Leukoencephalopathy, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... ORPHA:363710
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... ORPHA:139578
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Hypoplasia of the pons, Torticollis, Plagiocephaly, Cerebellar hypoplasia OMIM:607313
Developmental And Epileptic Encephalopathy 65
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Plagiocephaly, Spasticity OMIM:618008
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo... OMIM:618387
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Trichothiodystrophy 5, Nonphotosensitive
Broad-based gait, Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Gait ataxia, Progressi... OMIM:300953
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Short stature, Trem... OMIM:610185
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Flat occiput, Optic nerve hypoplasia, ... ORPHA:300570
Stxbp1-Related Encephalopathy
Cerebral white matter atrophy, Ataxia, Tremor, Inability to walk, Dysplastic corpus callosum, Del... ORPHA:599373
Symmetrical Thalamic Calcifications
Cerebral calcification, Ataxia, Microcephaly, Abnormality of neuronal migration, Hypertonia, Spas... ORPHA:1314
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Impaired pain... OMIM:608703
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... OMIM:208920
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Delayed CNS myelination, Microcephaly, Brachycephaly, Plagiocephaly, Hypoplasia of the corpus cal... OMIM:618603
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... ORPHA:98856
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... OMIM:271245
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Intrauterine growth retardation, T... OMIM:620270
Hogue-Janssen Syndrome 2
Delayed CNS myelination, Microcephaly, Inability to walk, Gait ataxia, Plagiocephaly, Hypoplasia ... OMIM:616362
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Microcephaly, Cortical dysplasia, Abnormality of neuronal migration, Macrocephaly, Abnorm... OMIM:618709
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, L... OMIM:615284
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Corpus callosum atrophy, Babinsk... ORPHA:171629
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Dysgenesis ... OMIM:615771
Krabbe Disease
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Hypertonia, Decereb... OMIM:245200
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... ORPHA:94124
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Hypoplasia of the pons, Limb ataxia, Hand t... OMIM:607596
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ... ORPHA:453521
Global Developmental Delay With Or Without Impaired Intellectual Development
Poor fine motor coordination, Frontal bossing, Lateral ventricle dilatation, Plagiocephaly OMIM:618330
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Intention tremor, ... ORPHA:98
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... OMIM:607458
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... OMIM:250100
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Cerebellar atrophy, Peripheral axonal neuropathy, Resting tremor, A... OMIM:617225
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speec... OMIM:300423
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Short stature, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesi... OMIM:616291
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Hypoplasia of the corpus callosum, Agenesis... OMIM:618577
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... OMIM:616204
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Speech apraxia, Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia ORPHA:137634
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... ORPHA:521406
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Hypoplasia of... OMIM:616494
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Short stature, Microcephaly, Hypoplasia of the pons, Periv... OMIM:616171
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Cerebral calcification, Ataxia, Isometric tremor, Upper limb postural tremor,... ORPHA:101110
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Ataxia, Brachycephaly ORPHA:404493
Joubert Syndrome 40
Oculomotor apraxia, Optic nerve hypoplasia OMIM:619582
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis, Distal sensory impairment OMIM:616287
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Truncal titubation, Abnormal cerebellum morphology, Ba... OMIM:610532
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Microcephaly, Abnormal cerebral white matter morphology, Facial diplegia, Tip... ORPHA:370980
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Apraxia, Ataxia, Babinski sign, Leukoencephalopathy, Hand tremor, Spasticity,... OMIM:615889
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Limb atax... OMIM:213200
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Delayed CNS myelination, Optic atrophy, Brachycephaly, Prominent occiput, Plagiocephaly, Hypoplas... OMIM:618672
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Plagiocephaly, Lateral vent... OMIM:617751
Septooptic Dysplasia
Optic disc hypoplasia, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:182230
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Short stature, Periventricular heterotopia, Inability to walk, Unst... OMIM:618273
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia, Rigidity, Babinski sign, Spastic paraplegia, Syringomyelia, Upper limb sp... OMIM:615033
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... OMIM:616127
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Gómez-López-Hernández Syndrome
Turricephaly, Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum ... ORPHA:1532
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... OMIM:618090
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Hypoplasia of th... ORPHA:228384
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Frontal bossing, Microcephaly, Inability to walk, Brachycephaly, Cerebral atrophy, Plagiocephaly,... OMIM:616801
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, A... OMIM:614831
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Frontal bossing, Diffuse cerebral atrophy, Ataxia, Mic... OMIM:617193
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Schizencephaly, Failure to thrive, Spastic tetraparesis, Microcephaly, Pachygyria, Simplified gyr... OMIM:604317
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Delayed CNS myelination, Cerebral palsy, Ataxia, Microcephaly, Optic atrophy,... OMIM:619833
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:614455
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Spinal cord les... ORPHA:401866
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Short stature... OMIM:300957
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, Lower limb spasticity, Tethered cord, Ataxia, Babinski sign, Spastic diplegia,... OMIM:615281
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia ORPHA:65288
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... OMIM:611302
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebellar hyp... ORPHA:33445
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Cerebral white matter atrophy, Dystonia, Ataxia, Short stat... ORPHA:464282
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Agenesis of corpus callosum, Brachycephaly, Dolichocephaly OMIM:615433
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy ORPHA:309169
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Short stature, Microcephaly, Tremor, Rigidity, Optic atrophy, Choreoa... OMIM:612438
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Delayed CNS myelination, Microcephaly, Brachycephaly, Temporal cortical atrophy, Plagiocephaly, H... OMIM:618862
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Craniosynostosis 4
Optic nerve hypoplasia, Sagittal craniosynostosis, Chiari type I malformation, Pansynostosis, Lam... OMIM:600775
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait ... OMIM:210000
Ritscher-Schinzel Syndrome 4
Ataxia, Chorea, Brachycephaly, Plagiocephaly, Athetosis, Cerebellar hypoplasia, Agenesis of corpu... OMIM:619435
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... OMIM:312080
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration/rege... OMIM:218000
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Kleefstra Syndrome 2
Plagiocephaly, Midface retrusion, Microcephaly OMIM:617768
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Ataxia, Postural tremor, Short stature, Tremor, Babinski sign, Opti... OMIM:607694
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... ORPHA:100989
Nabais Sa-De Vries Syndrome, Type 1
Brachycephaly, Hypertonia, Optic nerve hypoplasia, Primary microcephaly OMIM:618828
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular heterotopia, Periventricular cysts, Hypoplasia of the brainstem, Cerebell... ORPHA:255138
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic nerve hypoplasia, Delayed myelination, Optic atrophy, Hypoplasia of ... ORPHA:401777
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Plagiocephaly, Microphthalmia ORPHA:85284
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Basal ganglia calcification, Chorea, Rigidity, Abnormal pyramidal sign, Bra... OMIM:213600
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Frontal bossing, Ataxia, Poor coordination, Brachycephaly, Plagiocephaly, Spasticity, Midface ret... OMIM:618430
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hypoplasia of ... OMIM:300749
Glutaric Acidemia I
Dystonia, Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetr... OMIM:231670
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Aplasia/Hypoplasia of the cerebellum, Spasticity, Involuntary movements, Optic nerve hypoplasia ORPHA:572013
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Short stature, Tremor, Optic atrophy, Dysmetria, Striatal T2 hyperint... ORPHA:289494
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins... ORPHA:139480
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Caudate atr... OMIM:615574
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Micro... OMIM:620157
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Short stature, Cerebral atrophy, Spasticity, CNS demyelination, Abnor... OMIM:272200
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, M... OMIM:617914
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera... ORPHA:221091
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic... ORPHA:330050
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly, Unsteady gait OMIM:615516
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Ataxia, Primary microcephaly, Optic atrophy, Tetraplegia, Plagiocephaly, Seco... ORPHA:496641
Cebalid Syndrome
Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion OMIM:618774
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Microcephaly, Periventricular heterotopia, Partial agenesis of the corpus cal... OMIM:616212
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Flat occiput, Cerebellar vermis hypoplasia, Inability to walk, Optic atrophy, Gait ataxia, Plagio... OMIM:619383
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Microcephaly, Chorea, Posterior plagiocephaly, Hypoplasia of the corpus callo... OMIM:620149
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Bilateral microphthalmos, Brachyturricephaly, Optic nerve hypoplasia OMIM:607597
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ... OMIM:617810
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... OMIM:615157
Lissencephaly 5
Cerebellar vermis hypoplasia, Porencephalic cyst, Subcortical band heterotopia, Optic atrophy, Le... OMIM:615191
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... ORPHA:466768
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Frontal bossing, Ataxia, Brachycephaly OMIM:616789
Developmental And Epileptic Encephalopathy 84
Delayed CNS myelination, Microcephaly, Chorea, Babinski sign, Opisthotonus, Plagiocephaly, Spasti... OMIM:618792
19P13.13 Microdeletion Syndrome
Optic nerve hypoplasia, Corpus callosum atrophy, Optic atrophy, Brachycephaly, Chiari type I malf... ORPHA:357001
Dihydropyrimidinase Deficiency
Plagiocephaly, Abnormal pyramidal sign, Extrapyramidal dyskinesia OMIM:222748
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Dorsal col... OMIM:164400
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Babinski sign, Impaired proprioception, Impaired vibration sensati... ORPHA:100999
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly, Abnormal optic nerve morphology, Hypopigmentation of the fundus, Microcephaly ORPHA:77300
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s... ORPHA:93952
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Delayed CNS myelination, Ataxia, Microcephaly, Tremor, Inability to walk, Hypertonia, Cerebellar ... OMIM:619556
6Q25 Microdeletion Syndrome
Plagiocephaly, Agenesis of corpus callosum, Microcephaly ORPHA:251056
Cerebral Visual Impairment
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Clumsines... ORPHA:447788
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... OMIM:617145
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... OMIM:164500
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Delayed CNS myelination, Incoordination, Impaired pain sensation, Microcephaly, Gait ataxia, Plag... OMIM:616579
Joubert Syndrome 1
Optic disc pallor, Hemifacial spasm, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis,... OMIM:213300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Ataxia, Bilateral microphthalmos, Brachycephaly, Plagiocephaly, Spastic parapares... ORPHA:369891
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Cerebral dysmyel... OMIM:609136
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Cerebral atrophy, Dysmetria, Clumsines... ORPHA:79263
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Spinocerebellar tract degeneration... OMIM:183090
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Ataxia, Short stature, Tremor, Optic atrophy, Abnormal pyramidal si... OMIM:614381
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the ... ORPHA:3157
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Spasticity, Pachygyria, Agyria ORPHA:1084
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Microcephaly, Tremor, Growth delay, Spasticity OMIM:278780
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia, Craniosynostosis, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the ... OMIM:301056
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Lower limb spasticity, Delayed myelination, Frontal bossing, Optic nerve hypoplasia ORPHA:363686
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunction, P... ORPHA:101082
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microcephaly, Colpocephaly, Chiari malformation, Microphthalmia, Agenesis... OMIM:609053
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Abnormal cerebral white matter morphology, Failure to thrive, Ataxia OMIM:618951
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Impaired ... OMIM:162400
Tangier Disease
Peripheral axonal neuropathy, Impaired pain sensation, Impaired temperature sensation, Facial dip... OMIM:205400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Frontal bossing, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypopla... OMIM:614643
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Focal T2 hypointense basal ganglia lesion, P... ORPHA:139485
Hsd10 Disease
Ataxia, Microcephaly, Tremor, Rigidity, Postnatal growth retardation, Optic atrophy, Frontotempor... ORPHA:391417
Leukoencephalopathy With Calcifications And Cysts
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl... ORPHA:542310
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Microcephaly, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retr... OMIM:617284
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Oromandibular dystonia, Opisthotonus, Limb dystonia, Parkinsonism, Clumsine... OMIM:617013
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Myoclonus, Hypoplasia of the corpus callosum, Peripheral dysmy... OMIM:260565
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... ORPHA:216873
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Abnormal spinal cord morphol... ORPHA:88628
Glutathionuria
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor OMIM:231950
D-Glyceric Aciduria
Delayed CNS myelination, Optic nerve hypoplasia, Microcephaly, Spastic tetraplegia, Opisthotonus,... OMIM:220120
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor, Macrocephaly OMIM:611808
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Craniosynostosis, Olivopontocerebe... ORPHA:468631
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Small for gestational age, Periphe... OMIM:616733
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
X-Linked Charcot-Marie-Tooth Disease Type 3
Peripheral axonal neuropathy, Somatic sensory dysfunction, Tremor, Inability to walk, Gait distur... ORPHA:101077
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... ORPHA:171612
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Scaphocephaly, Fasciculations ORPHA:1143
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Chiari Malformation Type Ii
Ataxia, Spina bifida, Opisthotonus, Cervical myelopathy, Gray matter heterotopia, Chiari malforma... OMIM:207950
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Microcephaly, Tremor, Optic atrophy, Simplified gyral pat... OMIM:619470
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Pallor of dorsal columns ... OMIM:602433
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... OMIM:612020
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Microcephaly, Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelinati... ORPHA:477673
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Frontal bossing, Cerebellar vermis hypoplasia, Microcephaly, Chiari type I malformation, Plagioce... OMIM:619720
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Decreased motor nerve... ORPHA:99949
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Ataxia, Clonus, Hypoplastic anterior limbs of the internal capsule,... OMIM:615673
Craniofrontonasal Dysplasia
Frontal bossing, Craniosynostosis, Microcephaly, Brachycephaly, Plagiocephaly, Hypoplasia of the ... ORPHA:1520
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina... ORPHA:254930
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Tatton-Brown-Rahman Syndrome
Chiari type I malformation, Optic nerve hypoplasia, Sagittal craniosynostosis OMIM:615879
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Spinocerebellar Ataxia 34
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... OMIM:133190
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Microcephaly, Cerebral atrophy, Choreoatheto... OMIM:615471
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... ORPHA:171863
Fg Syndrome Type 1
Broad-based gait, Optic nerve hypoplasia, Craniosynostosis, Abnormal cerebellum morphology, Aplas... ORPHA:93932
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Brachycephaly, Cerebral atrophy, Hy... OMIM:612513
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal migr... ORPHA:89844
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Intention tremor OMIM:618381
Intellectual Developmental Disorder, X-Linked 104
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Hypoplasia of the corpus callosum, Spasti... OMIM:300983
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy OMIM:614116
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Basal ganglia calcification, Ce... OMIM:616505
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Pentasomy X
Plagiocephaly, Microcephaly ORPHA:11
Galloway-Mowat Syndrome 4
Cerebral atrophy, Plagiocephaly, Cerebellar hypoplasia, Primary microcephaly, Spasticity OMIM:617730
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Short stature, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia OMIM:617836
Hemimegalencephaly
Pachygyria, Optic atrophy, Hemimegalencephaly, Hemiparesis, Gray matter heterotopia, Myoclonus, M... ORPHA:99802
Intellectual Disability-Strabismus Syndrome
Microcephaly, Delayed myelination, Plagiocephaly, Gait disturbance, Hypoplasia of the corpus call... ORPHA:363528
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Microcephaly, Plagiocephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of th... ORPHA:500159
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Delayed CNS myelination OMIM:618821
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Optic nerve hypoplasia, Facial palsy, Microcephaly, Optic atrophy, Brachyc... ORPHA:261349
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Tremor, Dysplastic corpus callosum, Hypoesthesia... OMIM:619737
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Optic atrophy, Abnormal cerebral white matter morphology, Hypoplasia of th... ORPHA:352682
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Corpus callosum atrophy, Inability t... ORPHA:228360
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Difficul... ORPHA:306669
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Cerebellar vermis hypoplasia, Tethered cord, Ataxia, Microcephaly, Inability t... OMIM:620083
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye... ORPHA:2590
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface retrusion OMIM:602849
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy OMIM:612437
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Summitt Syndrome
Plagiocephaly, Craniosynostosis ORPHA:3210
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Frontal bossing, Microcephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion OMIM:619721
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Frontal bossing, Ataxia, Unsteady gait, Plagiocephaly, Lateral ventricle dilatation, Dolichocepha... ORPHA:457279
Maternal Hyperthermia-Induced Birth Defects
Short stature, Microcephaly, Abnormality of neuronal migration, Hypertonia, Intrauterine growth r... ORPHA:2216
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Microcephaly, Tremor, Cerebral atrophy, Basal ganglia cysts, Choreoath... OMIM:312170
Houge-Janssens Syndrome 3
Frontal bossing, Delayed CNS myelination, Microcephaly, Plagiocephaly, Hypoplasia of the brainste... OMIM:618354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Hypopla... OMIM:236670
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Microcephaly, Tremor, Rigidity, Short... ORPHA:442835
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic ... OMIM:619738
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, Ab... ORPHA:139396
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Aganglionic megacolon, Brachycephaly, Plagiocephaly, Gait disturbance, Myoclonus, Oculomo... ORPHA:247262
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Micro... OMIM:620155
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly ORPHA:94066
White-Sutton Syndrome
Waddling gait, Delayed CNS myelination, Optic nerve hypoplasia, Microcephaly, Brachycephaly, Cere... OMIM:616364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Short stature, Facial palsy, Babinski sign, Abnormality of neuronal migration, Hypoplasia of the ... OMIM:608840
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Secondary Syringomyelia
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Paraplegia, Sens... ORPHA:99857
Cardiofaciocutaneous Syndrome 4
Cerebellar hypoplasia, Optic nerve hypoplasia OMIM:615280
Microphthalmia, Syndromic 3
Optic nerve aplasia, Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Spastic... OMIM:206900
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Torticollis, Turricephaly, Inability to walk by childhood/adolescence, Chiari... OMIM:620224
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Intellectual Developmental Disorder, Autosomal Dominant 67
Posterior plagiocephaly OMIM:619927
Spinocerebellar Ataxia, Autosomal Recessive 31
Posterior atrophy of corpus callosum, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathe... OMIM:619422
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa... OMIM:615924
16Q24.3 Microdeletion Syndrome
Frontal bossing, Optic nerve hypoplasia, Colpocephaly, Biparietal narrowing, Hypoplasia of the co... ORPHA:261250
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Dystonia, Parkinsonism, Microcephaly, Tremor, Inability to walk, Rigidit... OMIM:618877
Hyperphenylalaninemia, Bh4-Deficient, C
Cerebral calcification, Microcephaly, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Peripheral hypomyeli... ORPHA:199343
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Ataxia, Retinal dystrophy, Elong... ORPHA:370022
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Grow... OMIM:252160
Aicardi-Goutieres Syndrome 6
Cerebral calcification, Microcephaly, Tremor, Rigidity, Leukodystrophy, Dystonia, Loss of ambulat... OMIM:615010
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Frontal bossing, Microcephaly, Spastic tetraplegia, Plagiocephaly, Hypoplasia of the corpus callo... ORPHA:371364
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Microcephaly, Babinski sign, Brachycephaly, Plagioce... OMIM:301072
Rhizomelic Chondrodysplasia Punctata, Type 2
Microcephaly, Optic nerve hypoplasia, Midface retrusion OMIM:222765
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Delayed myelination, Plagiocephaly, Hypo... ORPHA:457284
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Delayed myelination, Plagiocephaly, Athetosis, Midface retrusion, Cerebral... OMIM:239300
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Small for gestational age, Ataxia, Dystonia, Microcephaly, Tremor, ... OMIM:220111
Lessel-Kreienkamp Syndrome
Plagiocephaly, Frontal bossing, Scaphocephaly OMIM:619149
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxi... ORPHA:59315
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Abnorma... ORPHA:314632
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Verheij Syndrome
Optic nerve hypoplasia, Cerebral atrophy, Microcephaly OMIM:615583
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Hypertonia, Cerebellar hypoplasia, Microcephaly OMIM:619188
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu... ORPHA:529665
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypoplasia of the pons, Frontal bossing, Chiari malformation, Plagiocephaly OMIM:619293
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Delayed CNS myelination, Ataxia, Tremor, Optic atro... OMIM:617710
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Cerebral calcification, Abnormality of neuronal migration, Micro... ORPHA:1980
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Retina... OMIM:243605
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Relative macrocephaly, Short stature, Tremor, Cortical dysplasia, Simplified gyral pattern, Gait ... OMIM:300354
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Parietal foramina, Brachycephaly... OMIM:603671
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Coffin-Siris Syndrome 6
Plagiocephaly, Frontal bossing OMIM:617808
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Microcephaly, Tremor, Inability to walk, Globus pallid... OMIM:617988
Chromosome 14Q11-Q22 Deletion Syndrome
Delayed CNS myelination, Microcephaly, Inability to walk, Optic atrophy, Plagiocephaly, Hypertoni... OMIM:613457
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Microcephaly OMIM:618089
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... ORPHA:3095
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,... ORPHA:320375
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Plagiocephaly, Hypoplasia of the brainstem, Cerebellar... OMIM:617822
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation OMIM:619405
Autosomal Recessive Primary Microcephaly
Short stature, Microcephaly, Growth delay, Gray matter heterotopia, Hypoplasia of the frontal lob... ORPHA:2512
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Delay... ORPHA:572798
Cerebrooculonasal Syndrome
Frontal bossing, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Proboscis, C... OMIM:605627
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Ataxia, Parkinsonism, Microcephaly, Tremor, Rigidity, Choreoathetosis,... OMIM:261640
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Trigonocephaly, Decreased calvarial ossification, Plagiocephaly, Craniosynostosis OMIM:618265
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walk... OMIM:159950
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Microcephaly, Severe demyelination of the white matter, Atrophy of the spinal cord, Optic... ORPHA:79282
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly, Incoordination, Falls, Microcephaly OMIM:618106
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... OMIM:600116
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Failure to thrive, Cerebral calcification, Cerebellar vermis hypoplasia, ... OMIM:620024
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at... OMIM:137440
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Retinal detachment, Brachycephaly, Microphthalmia, Anterior plagiocephaly, Hypop... ORPHA:163649
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Frontal bossing, Delayed CNS myelination, Retinal dystrophy, Microcephaly, Hypoplasia of the pons... OMIM:619512
Spinocerebellar Ataxia With Epilepsy
Cerebral infarct, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, D... ORPHA:254881
Kleefstra Syndrome Due To A Point Mutation
Microcephaly, Brachycephaly, Plagiocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callo... ORPHA:261652
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Clonus, Babinski sign, Impaired proprioception, Impaired vibration sensati... ORPHA:100993
Squalene Synthase Deficiency
Optic nerve hypoplasia, Hypoplasia of the corpus callosum OMIM:618156
Superficial Siderosis
Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t... ORPHA:247245
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Cerebellar... OMIM:606519
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Microcephaly, Hemiplegia/hemiparesis, Pa... ORPHA:50
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Frontal bossing, Ataxia, Optic nerve hypoplasia, Positive Romberg sign, Intention tremor ORPHA:221139
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Abnormal cerebral white matter morphology, Myoclonus, Truncal ataxia OMIM:618587
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Microcephaly, Tremor, Choreoathetosis, Growth delay, Dystonia, Oculomotor apraxia, Spasti... OMIM:612716
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Microcephaly, Prominent occiput, Plagiocephaly, Hypoplasia of the corpus callosum, Spina bifida o... OMIM:617360
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Molybdenum Cofactor Deficiency, Complementation Group A
Frontal bossing, Spastic tetraparesis, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opist... OMIM:252150
Trisomy 20P
Frontal bossing, Incoordination, Spina bifida, Brachycephaly, Plagiocephaly, Gait disturbance, Ab... ORPHA:261318
Marshall-Smith Syndrome
Frontal bossing, Optic nerve hypoplasia, Craniosynostosis, Dolichocephaly, Cerebral atrophy, Prom... OMIM:602535
3-Hydroxyisobutyric Aciduria
Congenital intracerebral calcification, Failure to thrive, Abnormality of neuronal migration, Mic... OMIM:236795
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Microcephaly, Overweight, Tremor, Hyperkinetic movements, Gait disturbance, Upper ... ORPHA:457240
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly, Optic atrophy OMIM:605282
9Q33.3Q34.11 Microdeletion Syndrome
Delayed CNS myelination, Spastic tetraparesis, Microcephaly, Inability to walk, Brachycephaly, Pl... ORPHA:495818
Anauxetic Dysplasia 3
Spinal cord compression, Plagiocephaly, Midface retrusion OMIM:618853
Linear Nevus Sebaceus Syndrome
Frontal bossing, Aplasia/Hypoplasia of the corpus callosum, Prominent occiput, Plagiocephaly, Bip... ORPHA:2612
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Microcephaly, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dyst... OMIM:617664
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Craniosynostosis, Microcephaly, Brachycephaly, Plagiocephaly ORPHA:2163
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Tremor, Patent ductus arteriosus, Optic atrophy, Pontocerebellar atrophy, Secondary micro... OMIM:608799
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Periventricular Nodular Heterotopia 7
Optic disc pallor, Delayed CNS myelination, Ataxia, Cortical dysplasia, Gray matter heterotopia, ... OMIM:617201
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebral calcification, Ataxia, Periventricular heterotopia, Rigidity, Optic atrophy, Spastic tet... OMIM:618476
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Chromosome 17P13.1 Deletion Syndrome
Delayed CNS myelination, Turricephaly, Diffuse cerebral atrophy, Spina bifida, Microcephaly, Brac... OMIM:613776
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Microcephaly, Tremor, Babinski sign, Spastic para... OMIM:300055
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly ORPHA:53271
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Hypertonia, Leukodystrophy, Intention tremor, Ataxia, Overweight, Obesity, Macrocephaly, ... OMIM:619475
Frontonasal Dysplasia 2
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Craniosynostosis, Microcephaly, Pari... OMIM:613451
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebr... ORPHA:1192
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Microcephaly, Tremor, Plagiocephaly OMIM:619680
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Myoclonic-Atonic Epilepsy
Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus OMIM:616421
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Short stature, Microcephaly, Optic atrophy, Abnormality of neuronal migration, Hypertonia, Bipari... ORPHA:2518
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Subependymal Nodular Heterotopia
Partial agenesis of the corpus callosum, Abnormality of neuronal migration, Gray matter heterotop... ORPHA:101030
Walker-Warburg Syndrome
Abnormal cerebellar vermis morphology, Absent septum pellucidum, Abnormal cortical gyration, Micr...