Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
Null Syndrome |
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Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, O... |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
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Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:614895 |
Chronic Inflammatory Demyelinating Polyneuropathy |
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Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
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Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
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Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P... |
OMIM:620378 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
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Steppage gait, Onion bulb formation, Distal sensory impairment |
OMIM:616039 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
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Impaired pain sensation, Decreased compound muscle action potential amplitude, Impaired distal vi... |
OMIM:618279 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Peripheral demyelination, Inability to walk, ... |
OMIM:617672 |
Spinocerebellar Ataxia Type 43 |
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Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... |
ORPHA:497764 |
Peroxisome Biogenesis Disorder 8B |
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Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... |
OMIM:614877 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
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Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi... |
OMIM:606483 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
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Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ... |
OMIM:615185 |
Roussy-Levy Hereditary Areflexic Dystasia |
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Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:180800 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Decreased motor nerve conduction velocity, Demyelinating motor neuropathy, Tremor, Motor conducti... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
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Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Microcephaly... |
OMIM:619742 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
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Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
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Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Imp... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
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Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... |
OMIM:607677 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
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Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607734 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Bicoronal synostosis, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons,... |
OMIM:618736 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
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Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ... |
OMIM:311070 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
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Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
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Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
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Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista... |
OMIM:607731 |
Spinocerebellar Ataxia Type 25 |
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Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... |
ORPHA:101111 |
Spastic Paraplegia 55, Autosomal Recessive |
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Lower limb spasticity, Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic a... |
OMIM:615035 |
Autosomal Spastic Paraplegia Type 58 |
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Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Charcot-Marie-Tooth Disease, Type 4A |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Type 4H |
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Decreased number of peripheral myelinated nerve fibers, Waddling gait, Decreased motor nerve cond... |
OMIM:609311 |
Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
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Waddling gait, Peripheral axonal neuropathy, Cerebellar vermis hypoplasia, Microcephaly, Spastic ... |
OMIM:614563 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Charcot-Marie-Tooth Disease Type 4G |
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Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
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Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118200 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
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Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Spinocerebellar ... |
ORPHA:2572 |
Lissencephaly 3 |
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Cerebellar vermis hypoplasia, Agyria, Ataxia, Periventricular laminar heterotopia, Microcephaly, ... |
OMIM:611603 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu... |
OMIM:607250 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio... |
OMIM:610100 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
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Cerebellar atrophy, Ataxia, Optic nerve hypoplasia, Dysmetria, Gait ataxia |
OMIM:614306 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
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Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Type 4J |
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Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
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Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118220 |
Craniotelencephalic Dysplasia |
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Optic nerve hypoplasia, Craniosynostosis, Cerebellar hypoplasia, Microphthalmia, Agenesis of corp... |
OMIM:218670 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
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Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... |
ORPHA:2386 |
Charcot-Marie-Tooth Disease Type 1F |
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Absent brainstem auditory responses, Demyelinating motor neuropathy, Impaired proprioception, Han... |
ORPHA:101085 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
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Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo... |
OMIM:162500 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Caudate atrophy, Basal ganglia calcification, Babinski sign, Leukoencephalopathy, Cerebral atroph... |
OMIM:221770 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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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 |
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Short stature, Microcephaly, Inability to walk, Spastic paraplegia, Optic atrophy, Cerebellar hyp... |
OMIM:618572 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
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Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... |
OMIM:249900 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
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Cerebellar atrophy, Delayed CNS myelination, Clonus, Spastic tetraparesis, Microcephaly, Inabilit... |
OMIM:617481 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:607706 |
Paraparetic Variant Of Guillain-Barré Syndrome |
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Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception |
ORPHA:231445 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
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Chiari type I malformation, Plagiocephaly, Agenesis of corpus callosum |
ORPHA:459074 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
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Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination, Distal sensory i... |
ORPHA:99944 |
Craniosynostosis 6 |
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Cerebellar atrophy, Bicoronal synostosis, Turricephaly, Craniosynostosis, Microcephaly, Parietal ... |
OMIM:616602 |
Prune1-Related Neurological Syndrome |
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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 |
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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 |
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Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Optic atrophy, Cerebellar... |
ORPHA:1528 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
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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 |
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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 |
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Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Ag... |
ORPHA:250972 |
Spastic Ataxia, Charlevoix-Saguenay Type |
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Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, De... |
OMIM:270550 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
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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 |
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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 |
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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 |
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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 |
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Broad-based gait, Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Gait ataxia, Progressi... |
OMIM:300953 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
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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 |
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Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Flat occiput, Optic nerve hypoplasia, ... |
ORPHA:300570 |
Stxbp1-Related Encephalopathy |
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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 |
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Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... |
OMIM:208920 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
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Delayed CNS myelination, Microcephaly, Brachycephaly, Plagiocephaly, Hypoplasia of the corpus cal... |
OMIM:618603 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
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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 |
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Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Intrauterine growth retardation, T... |
OMIM:620270 |
Hogue-Janssen Syndrome 2 |
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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 |
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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 |
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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 |
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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 |
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Cerebellar vermis hypoplasia, Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ... |
ORPHA:453521 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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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 |
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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 |
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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 |
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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... |
ORPHA:899 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... |
ORPHA:64752 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Neuroferritinopathy |
|
Caudate atrophy, Writer's cramp, Chorea, Focal dystonia, Abnormal caudate nucleus morphology, Par... |
ORPHA:157846 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Optic atrophy, Craniosynostosis, Microcephaly |
ORPHA:457193 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... |
ORPHA:168563 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... |
ORPHA:2821 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Optic atrophy, Gait ataxia, Pig... |
ORPHA:255210 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Tremor, Chorea, Impaired distal vibra... |
OMIM:606002 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Lower limb spasticity, Frontal bossing, Optic nerve hypoplasia, Intention tremor |
OMIM:620029 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Sagittal craniosynostosis, Impaired pain sensation, Craniosynostosis, Ina... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Sagittal craniosynostosis, Impaired pain sensation, Craniosynostosis, Ina... |
ORPHA:352665 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Hemiplegia/hemiparesis, Lens coloboma, Retinal vascular mal... |
ORPHA:42775 |
Leber Congenital Amaurosis |
|
Hemiplegia/hemiparesis, Abnormal optic disc morphology, Abnormality of neuronal migration, Aplasi... |
ORPHA:65 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
6Q Terminal Deletion Syndrome |
|
Dysmetria, Gait ataxia, Plagiocephaly, Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the cor... |
ORPHA:75857 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Cerebral cortical atrophy, ... |
ORPHA:97229 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... |
OMIM:128100 |
Alg11-Cdg |
|
Cerebral white matter atrophy, Ataxia, Microcephaly, Delayed myelination, Cerebral atrophy, Opist... |
ORPHA:280071 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Vocal ... |
ORPHA:99956 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Plagiocephaly, Ataxia, Clumsiness |
OMIM:615656 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia, Short stature |
ORPHA:1368 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Short stature, Microcephaly,... |
OMIM:615356 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Microcephaly, Brachycephaly, Plagiocephaly, Gait disturbance, Hypoplasia of the corpus callosum |
ORPHA:500055 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Abnormality of neuronal migration, Gray matter heterotopia, Cerebellar ... |
OMIM:300049 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Obesity, Abnormality o... |
ORPHA:163681 |
Congenital Fibrosis Of Extraocular Muscles |
|
Plagiocephaly, Torticollis, Optic nerve hypoplasia |
ORPHA:45358 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Frontal bossing, Pain insensitivity, Delayed CNS myelination, Cerebellar vermis hypoplasia, Optic... |
OMIM:620330 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
Desmosterolosis |
|
Failure to thrive, Severe short stature, Absent septum pellucidum, Abnormal cortical gyration, Mi... |
ORPHA:35107 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Progressive extrapyramidal muscular rigidity, Spastic hemipares... |
ORPHA:282166 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Biparietal narrowing, Oculomotor ... |
ORPHA:220497 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Plagiocephaly, Brachycephaly |
OMIM:619910 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Microcephaly, Corpus callosum atrophy, Tremor, Impaired distal vibration sensation... |
OMIM:616586 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Aplasia/Hypoplas... |
ORPHA:475 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Cervical cord compression |
ORPHA:79345 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
Robinow-Sorauf Syndrome |
|
Plagiocephaly, Pansynostosis, Craniosynostosis |
OMIM:180750 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Microcephaly, Abnormality of neuronal migration, Disproportionate short-limb short stature, Aplas... |
ORPHA:2772 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance |
ORPHA:99014 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Aganglionic megacolon, Microcephaly, Plagiocephaly, Left unicoronal synostosis, Anterior plagioce... |
OMIM:614749 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... |
OMIM:300894 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Microcephaly, Tremor, Abnormal pyramidal sign, Aplasia/Hypoplasia of the ... |
ORPHA:765 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Abnormal cerebellum... |
ORPHA:447753 |
Acute Disseminated Encephalomyelitis |
|
Somatic sensory dysfunction, Hypointensity of cerebral white matter on MRI, Ataxia, Involuntary m... |
ORPHA:83597 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Spina bifida |
ORPHA:945 |
Baller-Gerold Syndrome |
|
Turricephaly, Optic nerve hypoplasia, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Op... |
OMIM:218600 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Torticollis, Tethered cord, Spina bifida, Partial agenesis of the corpus callosu... |
OMIM:619480 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
Cockayne Syndrome B |
|
Severe short stature, Small for gestational age, Ataxia, Abnormal peripheral myelination, Microce... |
OMIM:133540 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Bra... |
ORPHA:70594 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypoplasia ... |
ORPHA:495875 |
Pancreatic And Cerebellar Agenesis |
|
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Cereb... |
OMIM:609069 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ... |
OMIM:618733 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Involuntary movements, Microcephaly, Unsteady gait, Brachycephaly, Posterior plagiocephaly |
OMIM:617798 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Ataxia, Abnormal peripheral myelination, Short stature, Microcephaly, Tremor,... |
OMIM:216400 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Noonan Syndrome 13 |
|
Plagiocephaly, Microcephaly |
OMIM:619087 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Microcephaly, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus |
OMIM:619092 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Frontal bossing, Optic nerve hypoplasia, Craniosynostosis, Chiari type I malformation, Dandy-Walk... |
OMIM:617506 |
Familial Infantile Myoclonic Epilepsy |
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Cerebellar atrophy, Thick cerebral cortex, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, L... |
ORPHA:352582 |
Foix-Alajouanine Syndrome |
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Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Dysesthesia, Mye... |
ORPHA:79093 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Optic nerve hypoplasia, Facial palsy, Spina bifida, Microcephaly, Abnormal optic disc morphology,... |
ORPHA:508498 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Cerebellar atrophy, Ataxia, Short stature, Dysdiadochokinesis, Peripheral hypomyelination, Chroni... |
OMIM:612780 |
Aniridia 1 |
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Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen... |
OMIM:106210 |
Osteogenesis Imperfecta, Type Xx |
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Plagiocephaly, Microcephaly, Brachycephaly, Midface retrusion |
OMIM:618644 |
Choreoacanthocytosis |
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Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Small... |
ORPHA:2388 |
Joubert Syndrome With Ocular Defect |
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Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Biparietal narrowing, Oculomotor ... |
ORPHA:220493 |
Saethre-Chotzen Syndrome |
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Craniosynostosis, Optic atrophy, Brachycephaly, Blepharospasm, Plagiocephaly |
ORPHA:794 |
Oculocerebrocutaneous Syndrome |
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Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Wa... |
OMIM:164180 |
Aicardi-Goutières Syndrome |
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Extrapyramidal muscular rigidity, Microcephaly, Tremor, Hemiplegia/hemiparesis, Abnormal pyramida... |
ORPHA:51 |
Kufor-Rakeb Syndrome |
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Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Pseudo-Torch Syndrome 2 |
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Cerebral calcification, Microcephaly, Patent ductus arteriosus, Gray matter heterotopia, Lateral ... |
OMIM:617397 |
7Q31 Microdeletion Syndrome |
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Speech apraxia, Torticollis, Plagiocephaly, Hypoplasia of the olfactory bulb |
ORPHA:251061 |
Bilateral Perisylvian Polymicrogyria |
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Lower limb spasticity, Cerebellar vermis hypoplasia, Microcephaly, Paraparesis, Oromotor apraxia,... |
ORPHA:98889 |
Tay-Sachs Disease |
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Hypointensity of cerebral white matter on MRI, Tremor, Dysmetria, Decerebrate rigidity, Progressi... |
ORPHA:845 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Craniosynostosis, Impaired pain sensation, Microcephaly, Plagiocephaly, Syringomyelia, Abnormal a... |
ORPHA:453499 |
Paternal Uniparental Disomy Of Chromosome 5 |
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Posterior plagiocephaly |
ORPHA:96190 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Cerebellar atrophy, Exaggerated startle response, Tremor, Patent ductus arteriosus, Cerebellar hy... |
OMIM:620327 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Abnormal cerebellum morphology, Agenesis of corpus callosum, Optic nerve hypoplasia, Midface retr... |
ORPHA:226307 |
Holoprosencephaly 13, X-Linked |
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Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus cal... |
OMIM:301043 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
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Cerebellar edema, Cerebral white matter atrophy, Torticollis, Ataxia, Tremor, Myelopathy, Rigidit... |
OMIM:617186 |
Cerebral Creatine Deficiency Syndrome 2 |
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Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Frontal bossing, Delayed CNS myelination, Impaired pain sensation, Plagiocephaly, Dolichocephaly |
OMIM:619005 |
Glut1 Deficiency Syndrome 2 |
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Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia |
OMIM:612126 |
Holoprosencephaly 9 |
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Anophthalmia, Optic nerve hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Micr... |
OMIM:610829 |
Neurodegeneration With Brain Iron Accumulation 3 |
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Cavitation of the basal ganglia, Writer's cramp, Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, ... |
OMIM:606159 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Lower limb spasticity, Broad-based gait, Resting tremor, Short stature, Parkinsonism, Tremor, Obe... |
ORPHA:3077 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Plagiocephaly, Midface retrusion, Dolichocephaly |
ORPHA:2215 |
Vici Syndrome |
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Short stature, Hypoplasia of the pons, Optic atrophy, Gray matter heterotopia, Cerebellar hypopla... |
ORPHA:1493 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Speech apraxia, Frontal bossing, Ataxia, Dysplastic corpus callosum, Chiari type I malformation, ... |
ORPHA:466791 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Plagiocephaly, Spina bifida occulta, Microcephaly |
OMIM:619227 |
Joubert Syndrome With Hepatic Defect |
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Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Optic disc coloboma, Abnormalit... |
ORPHA:1454 |
Cerebrofacioarticular Syndrome |
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Cerebellar vermis hypoplasia, Ataxia, Short stature, Microcephaly, Dysplastic corpus callosum, Gr... |
ORPHA:314679 |
3-Methylglutaconic Aciduria, Type Viib |
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Cerebellar atrophy, Ataxia, Rhizomelia, Microcephaly, Tremor, Cerebral atrophy, Opisthotonus, Cho... |
OMIM:616271 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased nerve conduct... |
ORPHA:477817 |
Joubert Syndrome 30 |
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Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Broad-based gait, Ataxia, Tremor, Delayed myelination, Cessation of head growth, Obesity, Mild mi... |
ORPHA:98794 |
Radio-Tartaglia Syndrome |
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Ataxia, Microcephaly, Tremor, Obesity, Gray matter heterotopia, Gait imbalance, Agenesis of corpu... |
OMIM:619312 |
Ataxia With Vitamin E Deficiency |
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Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Bohring-Opitz Syndrome |
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Short stature, Delayed peripheral myelination, Microcephaly, Mesomelic/rhizomelic limb shortening... |
OMIM:605039 |
Neurocutaneous Melanocytosis |
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Abnormality of neuronal migration, Hemiparesis, Syringomyelia, Chiari malformation, Aplasia/Hypop... |
ORPHA:2481 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
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Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
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Optic disc pallor, Somatic sensory dysfunction, Short stature, Tremor, Dysmetria, Growth delay, P... |
ORPHA:502423 |
Duane Retraction Syndrome |
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Optic disc hypoplasia, Microcephaly, Blepharospasm, Plagiocephaly, Hypoplastic iris stroma, Chori... |
ORPHA:233 |
Alg12-Cdg |
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Retinal detachment, Delayed myelination, Abnormal peripheral nervous system morphology, Posterior... |
ORPHA:79324 |
Hydranencephaly |
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Optic nerve hypoplasia, Chorioretinal atrophy, Spastic diplegia, Opisthotonus, Primary microcepha... |
ORPHA:2177 |
Xeroderma Pigmentosum, Complementation Group F |
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Ataxia, Short stature, Microcephaly, Tremor, Decreased body weight, Aplasia/Hypoplasia involving ... |
OMIM:278760 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Peripheral axonal neuropathy, Cachexia, Decreased number of large peripheral myelinated nerve fib... |
ORPHA:298 |
Orofaciodigital Syndrome Type 6 |
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Cerebellar vermis hypoplasia, Ataxia, Short stature, Tremor, Abnormality of neuronal migration, A... |
ORPHA:2754 |
Mohr-Tranebjaerg Syndrome |
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Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Optic ... |
ORPHA:52368 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
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Microcephaly, Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia, Gray matter heterot... |
OMIM:617008 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
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Plagiocephaly |
ORPHA:2063 |
Tetrasomy 18P |
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Gait disturbance, Abnormality of neuronal migration, Microcephaly |
ORPHA:3307 |
Trichohepatoneurodevelopmental Syndrome |
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Microcephaly, Brachycephaly, Cerebral atrophy, Plagiocephaly, Cerebellar hypoplasia, Midface retr... |
OMIM:618268 |
Tetraamelia-Multiple Malformations Syndrome |
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Microphthalmia, Agenesis of corpus callosum, Septo-optic dysplasia, Optic atrophy |
ORPHA:3301 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Frontal bossing, Agenesis of pineal gland, Optic nerve hypoplasia, Sagittal craniosynostosis, Opt... |
ORPHA:536471 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Short stature, Abnormality of neuronal migration, Microcephaly |
ORPHA:2204 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
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Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... |
OMIM:201300 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Frontal bossing, Turricephaly, Aganglionic megacolon, Microcephaly, Plagiocephaly |
OMIM:613603 |
Aceruloplasminemia |
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Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, C... |
ORPHA:48818 |
Developmental And Epileptic Encephalopathy 4 |
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Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Chore... |
OMIM:612164 |
Atypical Progressive Supranuclear Palsy Syndrome |
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Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Opitz-Kaveggia Syndrome |
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Plagiocephaly, Frontal bossing, Partial agenesis of the corpus callosum, Spasticity |
OMIM:305450 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
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Frontal bossing, Brachycephaly, Plagiocephaly, Secondary microcephaly, Primary microcephaly |
OMIM:610759 |
Pyruvate Carboxylase Deficiency |
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Cerebral white matter atrophy, Ataxia, Tremor, Delayed myelination, Cerebellar gliosis, Abnormal ... |
ORPHA:3008 |
Adrenomyeloneuropathy |
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Peripheral axonal degeneration, Cerebral dysmyelination, Dysesthesia, Atrophy of the spinal cord,... |
ORPHA:139399 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Frontal bossing, Broad-based gait, Brachycephaly, Cerebral atrophy, Gait ataxia, Plagiocephaly, R... |
OMIM:280000 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Frontal bossing, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, Poor coordina... |
OMIM:619841 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Anophthalmia, Abnormal vitreous humor morphology, Plagiocephaly, Abnormal optic nerve morphology,... |
ORPHA:1101 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Frontal bossing, Torticollis, Craniosynostosis, Plagiocephaly, Peripapillary atrophy, Midface ret... |
ORPHA:536467 |
Gapo Syndrome |
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Frontal bossing, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Plagiocephaly |
OMIM:230740 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Frontal bossing, Optic nerve hypoplasia, Sagittal craniosynostosis, Dysplastic corpus callosum, O... |
ORPHA:500150 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Decreased number of peripheral myelinated nerve fibers, Pain insensitivity, Broad-based gait, Ata... |
OMIM:256810 |
Neu-Laxova Syndrome |
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Cerebral calcification, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Spina... |
ORPHA:2671 |
Raine Syndrome |
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Microcephaly, Brachycephaly, Plagiocephaly, Brachyturricephaly, Midface retrusion |
OMIM:259775 |
Den Hoed-De Boer-Voisin Syndrome |
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Lower limb spasticity, Ataxia, Microcephaly, Overweight, Inability to walk, Tremor, Obesity, Late... |
OMIM:619229 |
Joubert Syndrome With Oculorenal Defect |
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Cerebellar vermis hypoplasia, Ataxia, Abnormality of neuronal migration, Aplasia/Hypoplasia of th... |
ORPHA:2318 |
Osteopetrosis With Renal Tubular Acidosis |
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Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Brachycep... |
ORPHA:2785 |
Carey-Fineman-Ziter Syndrome 1 |
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Plagiocephaly, Hypoplasia of the brainstem, Facial palsy, Microcephaly |
OMIM:254940 |
Aymé-Gripp Syndrome |
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Craniosynostosis, Brachycephaly, Chiari type I malformation, Plagiocephaly, Hypoplasia of the cor... |
ORPHA:1272 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Cerebellar cortical atrophy |
OMIM:619321 |
Early Infantile Epileptic Encephalopathy |
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Cerebellar atrophy, Diffuse cerebral atrophy, Failure to thrive, Microcephaly, Tremor, Diffuse wh... |
ORPHA:1934 |
Coffin-Lowry Syndrome |
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Short stature, Microcephaly, Optic atrophy, Abnormality of neuronal migration, Aplasia/Hypoplasia... |
ORPHA:192 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Frontal bossing, Parietal foramina, Brachycephaly, Plagiocephaly, Coronal craniosynostosis |
ORPHA:85199 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, T2 hypointense basal ganglia, A... |
ORPHA:25 |
Adnp Syndrome |
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Microcephaly, Brachycephaly, Cerebral atrophy, Plagiocephaly, Hypertonia, Hypoplasia of the corpu... |
ORPHA:404448 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Gray matter heterotopia, Spasticity, Thin corpus callosum, Microcephaly |
OMIM:619694 |
Primary Dystonia, Dyt2 Type |
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Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Au-Kline Syndrome |
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Craniosynostosis, Sagittal craniosynostosis, Plagiocephaly, Syringomyelia, Dolichocephaly |
OMIM:616580 |
Japanese Encephalitis |
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Tremor, Opisthotonus, Choreoathetosis, Abnormal caudate nucleus morphology, Hypertonia, Respirato... |
ORPHA:79139 |
Arboleda-Tham Syndrome |
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Frontal bossing, Craniosynostosis, Microcephaly, Optic atrophy, Plagiocephaly, Lower limb hyperto... |
OMIM:616268 |
Myopathy, Mitochondrial, And Ataxia |
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Ataxia, Short stature, Tremor, Inability to walk, Limb ataxia, Distal sensory impairment, Dysmetr... |
OMIM:617675 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Plagiocephaly |
ORPHA:2916 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Cerebral calcification, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Abnormal... |
ORPHA:157 |
Aicardi Syndrome |
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Delayed CNS myelination, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Postnatal grow... |
OMIM:304050 |
Coenzyme Q10 Deficiency, Primary, 1 |
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Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Righ... |
OMIM:607426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Agenesis of cerebellar vermis, Absent septum pellucidum, Type II lissencephaly, Cortical dysplasi... |
OMIM:615287 |
Alexander Disease |
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Cerebral calcification, Ataxia, Facial palsy, Clonus, Megalencephaly, Tremor, Chorea, Abnormal py... |
ORPHA:58 |
Microphthalmia, Syndromic 6 |
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Delayed CNS myelination, Anophthalmia, Retinal dystrophy, Microcephaly, Brachycephaly, Aplasia/Hy... |
OMIM:607932 |
Coffin-Siris Syndrome 1 |
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Frontal bossing, Delayed CNS myelination, Microcephaly, Partial agenesis of the corpus callosum, ... |
OMIM:135900 |
12Q14 Microdeletion Syndrome |
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Short stature, Microcephaly, Tremor, Chiari malformation, Syringomyelia, Intrauterine growth reta... |
ORPHA:94063 |
Parkinson Disease 14, Autosomal Recessive |
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Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Congenital Disorder Of Deglycosylation 2 |
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Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, M... |
OMIM:619775 |
Hypomelanosis Of Ito |
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Gray matter heterotopia, Macrocephaly, Cerebral atrophy, Microcephaly |
OMIM:300337 |
Microgastria-Limb Reduction Defect Syndrome |
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Frontal bossing, Anophthalmia, Plagiocephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:2538 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
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Plagiocephaly |
OMIM:261990 |
Edinburgh Malformation Syndrome |
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Hypertonia, Failure to thrive, Abnormality of neuronal migration |
ORPHA:1895 |
Perry Syndrome |
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Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, H... |
OMIM:105210 |
Proboscis Lateralis |
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Anophthalmia, Optic nerve hypoplasia, Proboscis, Optic disc coloboma, Chorioretinal coloboma, Mic... |
ORPHA:141099 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
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Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Microcephaly, Tremor, Postnat... |
OMIM:300966 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Microcephaly, Optic atrophy, Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lis... |
OMIM:615219 |
9Q21.13 Microdeletion Syndrome |
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Postnatal growth retardation, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia,... |
ORPHA:531151 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Cerebellar atrophy, Resting tremor, Peripheral axonal neuropathy, Ataxia, Facial palsy, Tremor, R... |
ORPHA:254892 |
Atelosteogenesis Type Ii |
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Plagiocephaly, Midface retrusion |
ORPHA:56304 |
Classic Progressive Supranuclear Palsy Syndrome |
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Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Fibrochondrogenesis |
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Plagiocephaly |
ORPHA:2021 |
Congenital Disorder Of Glycosylation, Type Ia |
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Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Microcephaly,... |
OMIM:212065 |
Neonatal Adrenoleukodystrophy |
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Optic atrophy, Abnormality of neuronal migration, Short stature, Macrocephaly |
ORPHA:44 |
Niemann-Pick Disease Type C |
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Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leukodystrophy, Limb dystonia, ... |
ORPHA:646 |
3C Syndrome |
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Short stature, Postnatal growth retardation, Optic atrophy, Abnormality of neuronal migration, Ma... |
ORPHA:7 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi... |
ORPHA:228308 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Optic disc pallor, Incoordination, Ataxia, Short stature, Microcephaly, Tremor, Unsteady gait, Op... |
OMIM:614947 |
Faciocardiorenal Syndrome |
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Plagiocephaly |
ORPHA:1973 |
Parkinson Disease 17 |
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Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Ataxia-Telangiectasia |
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Ataxia, Short stature, Microcephaly, Tremor, Inability to walk, Slurred speech, Choreoathetosis, ... |
OMIM:208900 |
Turnpenny-Fry Syndrome |
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Frontal bossing, Torticollis, Cerebellar vermis hypoplasia, Microcephaly, Brachycephaly, Plagioce... |
OMIM:618371 |
8Q24.3 Microdeletion Syndrome |
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Optic nerve hypoplasia, Bilateral microphthalmos, Secondary microcephaly, Retinal coloboma, Hypop... |
ORPHA:508488 |
Cranioectodermal Dysplasia 2 |
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Frontal bossing, Cloverleaf skull, Craniosynostosis, Plagiocephaly, Dolichocephaly, Midface retru... |
OMIM:613610 |
Thanatophoric Dysplasia Type 2 |
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Patent ductus arteriosus, Short stature, Abnormality of neuronal migration, Macrocephaly |
ORPHA:93274 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
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Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... |
OMIM:618527 |
Degcags Syndrome |
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Craniosynostosis, Microcephaly, Vocal cord paralysis, Plagiocephaly, Abnormal myelination, Microp... |
OMIM:619488 |
Neurofaciodigitorenal Syndrome |
|
Plagiocephaly, Brachycephaly |
ORPHA:2673 |
Doors Syndrome |
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Frontal bossing, Small cerebellar cortex, Sagittal craniosynostosis, Microcephaly, Optic atrophy,... |
ORPHA:79500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Relative macrocephaly, Speech apraxia, Ataxia, Tremor, Dysplastic corpus callosum, Patent ductus ... |
OMIM:300967 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology, Abnormal parietal bone morphology |
ORPHA:83468 |
Amoebiasis Due To Free-Living Amoebae |
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Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Abnormal cerebe... |
ORPHA:68 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Delayed CNS myelination, Tremor, Cortical dysplasia, Lateral ventricle dilatation,... |
OMIM:617557 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Ataxia, Abnorm... |
OMIM:601992 |
16P13.11 Microdeletion Syndrome |
|
Short stature, Microcephaly, Abnormality of neuronal migration, Hypertonia, Agenesis of corpus ca... |
ORPHA:261236 |
Cleidocranial Dysplasia 2 |
|
Plagiocephaly |
OMIM:620099 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Short stature, Spastic tetraparesis, Microcephaly, Trem... |
ORPHA:2203 |
Holoprosencephaly 14 |
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Cerebellar atrophy, Absent septum pellucidum, Microcephaly, Periventricular heterotopia, Partial ... |
OMIM:619895 |
Spinal Arteriovenous Metameric Syndrome |
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Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Brachycephaly |
ORPHA:264200 |
Thanatophoric Dysplasia |
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Patent ductus arteriosus, Gray matter heterotopia, Disproportionate short-limb short stature, Mac... |
ORPHA:2655 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
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Plagiocephaly |
OMIM:618548 |
Helsmoortel-Van Der Aa Syndrome |
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Posterior plagiocephaly, Lateral ventricle dilatation, Facial palsy, Midface retrusion |
OMIM:615873 |
Dpagt1-Cdg |
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Ataxia, Akinesia, Microcephaly, Tremor, Inability to walk, Abnormal cerebellum morphology, Optic ... |
ORPHA:86309 |
Ring Chromosome 7 Syndrome |
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Microcephaly, Abnormal cerebellum morphology, Brachycephaly, Plagiocephaly, Cerebral cortical atr... |
ORPHA:1449 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Optic disc pallor, Failure to thrive, Patent ductus arteriosus, Unsteady gait, Aplasia/Hypoplasia... |
OMIM:214100 |
Holoprosencephaly |
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Dystonia, Failure to thrive in infancy, Microcephaly, Chorea, Optic atrophy, Spinal cord tumor, A... |
ORPHA:2162 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Cerebral calcification, Ataxia, Short stature, Tremor, Postnatal growth retardation, Optic atroph... |
OMIM:612199 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:95494 |
Galloway-Mowat Syndrome |
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Short stature, Microcephaly, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Hypertoni... |
ORPHA:2065 |
Hypermanganesemia With Dystonia 1 |
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Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Orofaciodigital Syndrome Xvi |
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Oculomotor apraxia, Inability to walk, Ataxia, Gray matter heterotopia |
OMIM:617563 |
Keratoderma Hereditarium Mutilans |
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Abnormal spinal cord morphology |
ORPHA:494 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Plagiocephaly, Gait disturbance, Midface retrusion |
ORPHA:3042 |
Saethre-Chotzen Syndrome |
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Parietal foramina, Oxycephaly, Brachycephaly, Plagiocephaly, Skull asymmetry, Lambdoidal craniosy... |
OMIM:101400 |
Parkinson Disease, Late-Onset |
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Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,... |
OMIM:168600 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Optic disc pallor, Small for gestational age, Microcephaly, Patent ductus arteriosus, Abnormality... |
ORPHA:464311 |
Multiple System Atrophy 1, Susceptibility To |
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Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Olivopontocerebellar atrophy |
OMIM:146500 |
Parkinson Disease 20, Early-Onset |
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Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... |
OMIM:234200 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity, Postural hypote... |
OMIM:256800 |
Pituitary Stalk Interruption Syndrome |
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Septo-optic dysplasia |
ORPHA:95496 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Intracerebral periventricular calcifications, Microcephaly, Abnormality of neuronal migration, Ba... |
OMIM:608836 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Plagiocephaly, Craniosynostosis |
ORPHA:1521 |
Miller-Dieker Lissencephaly Syndrome |
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Failure to thrive, Microcephaly, Gray matter heterotopia, Lissencephaly, Hypoplasia of the corpus... |
OMIM:247200 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Anterior plagiocephaly, Bicoronal synostosis |
OMIM:619718 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Frontal bossing, Peripheral retinal avascularization, Microcephaly, Spinal dysraphism, Plagiocephaly |
ORPHA:96334 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Optic nerve hypoplasia |
OMIM:620025 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Failure to thrive, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical... |
OMIM:210710 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Plagiocephaly, Microcephaly |
ORPHA:444077 |
Tremor, Nystagmus, And Duodenal Ulcer |
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Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Vici Syndrome |
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Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Postnatal growth retardation, Gray ma... |
OMIM:242840 |
Thanatophoric Dysplasia, Type I |
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Temporal lobe dysplasia, Gray matter heterotopia, Disproportionate short-limb short stature, Macr... |
OMIM:187600 |
Genitourinary And/Or Brain Malformation Syndrome |
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Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chia... |
OMIM:618820 |
Arima Syndrome |
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Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Op... |
OMIM:243910 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity |
OMIM:176500 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Gray matter heterotopia, Inability to walk, Hepatic periportal necrosis, Macrocephaly |
ORPHA:26791 |
Mowat-Wilson Syndrome |
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Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Aganglioni... |
ORPHA:2152 |
Faundes-Banka Syndrome |
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Plagiocephaly, Frontal bossing, Primary microcephaly |
OMIM:619376 |
Meckel Syndrome 12 |
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Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Intrauterine growth retardati... |
OMIM:616258 |
Orofaciodigital Syndrome I |
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Short stature, Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Gr... |
OMIM:311200 |
Orofaciodigital Syndrome Xiv |
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Cerebellar vermis hypoplasia, Microcephaly, Periventricular heterotopia, Partial agenesis of the ... |
OMIM:615948 |
Koolen-De Vries Syndrome |
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Small for gestational age, Short stature, Microcephaly, Patent ductus arteriosus, Gray matter het... |
OMIM:610443 |
Supranuclear Palsy, Progressive, 1 |
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Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Akinesia, Neurofibr... |
OMIM:601104 |
Liver Disease, Severe Congenital |
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Poor fine motor coordination, Delayed CNS myelination, Plagiocephaly |
OMIM:619991 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
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Gray matter heterotopia, Spasticity, Hypoplasia of the corpus callosum, Cerebral atrophy |
OMIM:618797 |
Thanatophoric Dysplasia Type 1 |
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Gray matter heterotopia, Patent ductus arteriosus, Lethal short-limbed short stature, Macrocephaly |
ORPHA:1860 |
Trichorhinophalangeal Syndrome, Type Ii |
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Hemiparesis, Skull asymmetry, Plagiocephaly, Microcephaly |
OMIM:150230 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Intrauterine growth retardation, Failure to thrive, Delayed peripheral myelination, Microcephaly |
ORPHA:364577 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension, Incoordina... |
OMIM:223900 |
3-Methylglutaconic Aciduria, Type Viii |
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Clonus, Tremor, Patent ductus arteriosus, Cerebral atrophy, Growth delay, Hypertonia, Secondary m... |
OMIM:617248 |
Van Maldergem Syndrome 1 |
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Subcortical band heterotopia, Simplified gyral pattern, Growth delay, Gray matter heterotopia, Hy... |
OMIM:601390 |
Orofaciodigital Syndrome Type 14 |
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Dilated fourth ventricle, Microcephaly, Periventricular heterotopia, Partial agenesis of the corp... |
ORPHA:434179 |
Adult-Onset Dystonia-Parkinsonism |
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Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
African Trypanosomiasis |
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Abnormal basal ganglia MRI signal intensity, Papilledema, Somatic sensory dysfunction, Abnormal c... |
ORPHA:3385 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Abnormal cortical gyration, Abnormality of neuronal migration, Macrogyria, Lissencephaly, Pachygy... |
ORPHA:2211 |
Periventricular Nodular Heterotopia 9 |
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Broad-based gait, Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Periv... |
OMIM:618918 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
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Neonatal death, Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Fontaine Progeroid Syndrome |
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Cerebellar vermis hypoplasia, Small for gestational age, Short stature, Microcephaly, Periventric... |
OMIM:612289 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Plagiocephaly, Microcephaly |
OMIM:613355 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Agenesis of corpus... |
ORPHA:261537 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Gray matter heterotopia, Obesity |
OMIM:608624 |
Van Maldergem Syndrome 2 |
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Subcortical band heterotopia, Growth delay, Gray matter heterotopia, Hypoplasia of the corpus cal... |
OMIM:615546 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia, Agenesis of corpus callosum, Plexiform neurofibroma |
OMIM:276300 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Agenesis of corpus... |
ORPHA:261552 |
Hydrolethalus Syndrome 1 |
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Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Still... |
OMIM:236680 |
Nijmegen Breakage Syndrome |
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Short stature, Abnormality of neuronal migration, Cachexia, Microcephaly |
ORPHA:647 |
Pagod Syndrome |
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Short stature, Spina bifida, Microcephaly, Optic atrophy, Abnormality of neuronal migration |
ORPHA:991 |
Primary Sjögren Syndrome |
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Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Abnormal cerebellum mo... |
ORPHA:289390 |
Tetrasomy 9P |
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Abnormal spinal cord morphology, Lissencephaly, Macrocephaly, Intrauterine growth retardation, Pa... |
ORPHA:3310 |
Mosaic Trisomy 20 |
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Abnormal spinal cord morphology, Craniofacial asymmetry |
ORPHA:1724 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Abnormality of neuronal migration, Microcephaly |
ORPHA:3186 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia |
OMIM:219730 |
Limb Body Wall Complex |
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Abnormal spinal cord morphology, Spina bifida occulta, Anencephaly, Spina bifida |
ORPHA:2369 |
Proteus Syndrome |
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Gray matter heterotopia, Cachexia, Macrocephaly |
ORPHA:744 |