Autosomal Recessive Spastic Paraplegia Type 71 |
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Hand tremor, Abnormal myelination |
ORPHA:401840 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Agenesis of corpus callosum, Hand tremor, Abnormal myelination |
ORPHA:401830 |
Autosomal Recessive Spastic Paraplegia Type 67 |
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Agenesis of corpus callosum, Limb tremor, Abnormal myelination |
ORPHA:401820 |
Alg13-Cdg |
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Abnormal lateral ventricle morphology, Cognitive impairment |
ORPHA:324422 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Abnormal ... |
ORPHA:85179 |
Lissencephaly 4 |
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Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Ataxia, Hand tremor, Lateral ventricle dilatation, Dementia, Dystonia |
OMIM:615889 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
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Gait ataxia, Abnormal lateral ventricle morphology, Severe demyelination of the white matter |
ORPHA:488635 |
Pontocerebellar Hypoplasia, Type 1A |
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Ataxia, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Lateral ventricle dilatati... |
OMIM:607596 |
2,4-Dienoyl-Coa Reductase Deficiency |
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Delayed CNS myelination, Ataxia, Hydrocephalus, Optic atrophy, Choreoathetosis, Colpocephaly, Leu... |
OMIM:616034 |
Polyrrhinia |
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Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Band Heterotopia |
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Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Autosomal Recessive Spastic Paraplegia Type 57 |
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Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination |
ORPHA:431329 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Frontal lobe dementia, Lateral ventricle dilatation, Dementia, Abnormal upper motor neuron morpho... |
OMIM:221770 |
Central Neurocytoma |
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Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Paresthesia |
ORPHA:73256 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Neonatal death, Colpocephaly |
OMIM:614870 |
Autosomal Recessive Spastic Paraplegia Type 70 |
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Hand tremor, Abnormal myelination |
ORPHA:401835 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
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Bradyphrenia, Short attention span, Delayed CNS myelination, Ataxia, Delayed myelination, Lateral... |
OMIM:617854 |
Congenital Hydrocephalus |
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Hydrocephalus, Optic atrophy, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Leukoencephalopathy With Vanishing White Matter 5 |
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Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Autosomal Recessive Spastic Paraplegia Type 66 |
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Colpocephaly, Impaired vibration sensation in the lower limbs |
ORPHA:401815 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
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Delayed CNS myelination, Lateral ventricle dilatation, Dystonia |
OMIM:617668 |
Cach Syndrome |
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Progressive neurologic deterioration, Dysmyelinating leukodystrophy, Optic atrophy, Limb ataxia, ... |
ORPHA:135 |
Hemiparkinsonism-Hemiatrophy Syndrome |
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Tremor, Lateral ventricle dilatation, Dystonia |
ORPHA:306669 |
Intellectual Developmental Disorder, X-Linked 103 |
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Lateral ventricle dilatation |
OMIM:300982 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
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Hydrocephalus, Optic atrophy, Abnormal myelination |
ORPHA:352682 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
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Decreased number of peripheral myelinated nerve fibers, Lateral ventricle dilatation, Facial pals... |
OMIM:256850 |
Unilateral Hemispheric Polymicrogyria |
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Lateral ventricle dilatation |
ORPHA:101071 |
Polymicrogyria Due To Tubb2B Mutation |
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Lateral ventricle dilatation, Agenesis of corpus callosum, Cognitive impairment, Attention defici... |
ORPHA:300573 |
Glutaric Acidemia I |
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Hydrocephalus, Delayed myelination, Opisthotonus, Choreoathetosis, Symmetrical progressive periph... |
OMIM:231670 |
Microphthalmia-Brain Atrophy Syndrome |
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Lateral ventricle dilatation, Diffuse demyelination of the cerebral white matter |
ORPHA:77299 |
Alg2-Cdg |
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Cerebral hypomyelination, Lateral ventricle dilatation |
ORPHA:79326 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Delayed CNS myelination, Ataxia, Demyelinating peripheral neuropathy, Hydrocephalus, Optic atroph... |
OMIM:619833 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
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Delayed CNS myelination, Colpocephaly |
OMIM:618731 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
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Lateral ventricle dilatation |
OMIM:619972 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Ataxia, Tremor, Optic atrophy, Attention deficit hyperactivity disorder, Abnormal myelination, Me... |
ORPHA:442835 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
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Delayed CNS myelination, Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:619517 |
Glutamine Deficiency, Congenital |
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Neonatal death, Subependymal cysts, Lateral ventricle dilatation, CNS hypomyelination |
OMIM:610015 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Ataxia, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Dystonia, Agenesis... |
ORPHA:79243 |
Pontocerebellar Hypoplasia, Type 12 |
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Lateral ventricle dilatation |
OMIM:618266 |
Hypotonia, Infantile, With Psychomotor Retardation |
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Lateral ventricle dilatation |
OMIM:616816 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
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Lateral ventricle dilatation, Optic nerve hypoplasia |
OMIM:618890 |
X-Linked Parkinsonism-Spasticity Syndrome |
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Resting tremor, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Lateral ventricle dilatation, Agenesis of corpus callosum, Optic nerve hypoplasia, Dandy-Walker m... |
OMIM:618736 |
Martsolf Syndrome 2 |
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Lateral ventricle dilatation |
OMIM:619420 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
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Delayed myelination, Lateral ventricle dilatation |
ORPHA:284417 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Dilated fourth ventricle, Ataxia, Tremor, Delayed myelination, Dysmetria, Athetosis, Lateral vent... |
ORPHA:572798 |
Bilateral Generalized Polymicrogyria |
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Lateral ventricle dilatation, Oculogyric crisis, Dystonia |
ORPHA:208447 |
D-2-Hydroxyglutaric Aciduria 1 |
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Subependymal cysts, Delayed CNS myelination, Lateral ventricle dilatation |
OMIM:600721 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Delayed CNS myelination, Lateral ventricle dilatation, Dystonia |
OMIM:614105 |
Malan Overgrowth Syndrome |
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Episodic ataxia, Optic disc pallor, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
X-Linked Intellectual Disability, Wilson Type |
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Delayed myelination, Lateral ventricle dilatation |
ORPHA:85290 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Lateral ventricle dilatation |
OMIM:618330 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Developmental And Epileptic Encephalopathy 31B |
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Optic atrophy, Opisthotonus, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Holoprosencephaly 5 |
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Hydrocephalus, Lateral ventricle dilatation |
OMIM:609637 |
Joubert Syndrome 3 |
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Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia |
OMIM:608629 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
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Delayed CNS myelination, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Lateral ... |
OMIM:617296 |
Pontocerebellar Hypoplasia, Type 13 |
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Lateral ventricle dilatation, Dandy-Walker malformation, Gait ataxia |
OMIM:618606 |
Adams-Oliver Syndrome 2 |
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Hydrocephalus, Optic atrophy, Lateral ventricle dilatation |
OMIM:614219 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
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Lateral ventricle dilatation |
OMIM:619278 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Spastic ataxia, Short attention span, Torticollis, Optic nerve hypoplasia, Partial agenesis of th... |
ORPHA:300570 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Dilated fourth ventricle, Lateral ventricle dilatation, Optic atrophy, Dandy-Walker malformation |
ORPHA:3078 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Agenesis of corpus callo... |
OMIM:615219 |
Craniosynostosis 6 |
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Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:616602 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
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Cognitive impairment, Delayed myelination, Lateral ventricle dilatation |
ORPHA:2148 |
Weiss-Kruszka Syndrome |
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Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Short attention span, Orthostatic hypotension, Ataxia, Lateral ventricle dilatation, Dementia, Me... |
ORPHA:2822 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
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Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Memory impairment, Lateral ventricle dilatation, Progressive language deterioration, Frontotempor... |
OMIM:607485 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
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Delayed CNS myelination, Lateral ventricle dilatation |
OMIM:620075 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Titubation, Cerebral hypomyelination, Ataxia, Abnormal myelination |
ORPHA:280210 |
Paganini-Miozzo Syndrome |
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Lateral ventricle dilatation |
OMIM:301025 |
Fanconi Anemia, Complementation Group I |
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Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:609053 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Decreased nerve conduction velocity, Optic disc pallor, Lateral ventricle dilatation, Leg dystonia |
ORPHA:565624 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished ability to concentr... |
OMIM:612863 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Ventriculomegaly, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Dilated third ventr... |
OMIM:613154 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
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Lateral ventricle dilatation, Intention tremor |
OMIM:619995 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Abnormal myelination |
ORPHA:289266 |
Cog5-Cdg |
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Delayed myelination, Lateral ventricle dilatation, Truncal ataxia |
ORPHA:263487 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
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Limb dystonia, Lateral ventricle dilatation, Opisthotonus |
OMIM:619847 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Abnormality of peripheral somatosensory evoked potentials, Impaired vibratory sensation, Somatic ... |
ORPHA:466768 |
Gabriele-De Vries Syndrome |
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Delayed CNS myelination, Tremor, Lateral ventricle dilatation, Attention deficit hyperactivity di... |
OMIM:617557 |
Spondyloenchondrodysplasia |
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Chorea, Abnormal lateral ventricle morphology, Ventriculomegaly |
ORPHA:1855 |
Den Hoed-De Boer-Voisin Syndrome |
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Short attention span, Ataxia, Tremor, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:619229 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
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Delayed CNS myelination, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:617260 |
Halperin-Birk Syndrome |
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Agenesis of corpus callosum, Colpocephaly, Optic atrophy, Ventriculomegaly |
OMIM:618651 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Delayed CNS myelination, Exaggerated startle response, CNS hypomyelination, Lateral ventricle dil... |
OMIM:618367 |
Aicardi-Goutieres Syndrome 9 |
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Delayed CNS myelination, Optic atrophy, Lateral ventricle dilatation, Dystonia |
OMIM:619487 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
16Q24.3 Microdeletion Syndrome |
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Colpocephaly, Optic nerve hypoplasia, Ventriculomegaly |
ORPHA:261250 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Short attention span, Hydrocephalus, Lateral ventricle dilatation, Leukodystrophy, Attention defi... |
OMIM:619575 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:620113 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Ventriculomegaly, Colpocephaly, Abnormal optic disc morphology, Lateral ventricle dilatation, Dil... |
ORPHA:397715 |
Pseudo-Torch Syndrome 2 |
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Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
Choreoacanthocytosis |
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Decreased number of peripheral myelinated nerve fibers, Impaired vibratory sensation, Resting tre... |
ORPHA:2388 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Abnormal myelination |
OMIM:617333 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Optic disc pallor, Colpocephaly, Ataxia, Dystonia |
OMIM:620083 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:488627 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Attention defi... |
ORPHA:544488 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic nerve dysplasia, Optic atrophy, Athetosis, Colpocephaly, Agenesis of corpus callosum |
OMIM:614866 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Optic disc pallor, Dystonia, Delayed myelination, Chorea, Optic atrophy, Athetosis, Abnormal myel... |
ORPHA:404454 |
Aicardi Syndrome |
|
Delayed CNS myelination, Partial agenesis of the corpus callosum, Optic disc coloboma, Optic atro... |
OMIM:304050 |
Monosomy 18Q |
|
Choreoathetosis, Hydrocephalus, Abnormal myelination |
ORPHA:1600 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination, Truncal ataxia, Dysdiadochokinesis, Dystonia, Action tremor |
ORPHA:309854 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation |
OMIM:612301 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Progressive neurologic deterioration, Abnormality of peripheral nerve conducti... |
ORPHA:90324 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Khan-Khan-Katsanis Syndrome |
|
Colpocephaly, Ventriculomegaly |
OMIM:618460 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Delayed myelination, Colpocephaly |
ORPHA:477993 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Attention deficit hyperact... |
OMIM:618820 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia, Colpocephaly |
OMIM:301043 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Agenesis of corpus callosum, Colpocephaly |
OMIM:309801 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Progressive neurologic deterioration, Partial agenesis of the corpus callosum, Hydrocephalus, Lat... |
OMIM:210710 |
6Q Terminal Deletion Syndrome |
|
Colpocephaly, Dysmetria, Gait ataxia |
ORPHA:75857 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Dand... |
OMIM:270400 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Opisthotonus |
OMIM:614098 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Social and occupational deterioration, Delayed myelination, Abnormal lateral ventricle morphology |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Social and occupational deterioration, Delayed myelination, Abnormal lateral ventricle morphology |
ORPHA:353277 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Abnormal myelination, Dilated ... |
ORPHA:434179 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Lateral ventricle dilatation |
OMIM:619869 |
Degcags Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly, Abnormal myelination |
OMIM:619488 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Delayed CNS myelination, Lateral ventricle dilatation |
OMIM:300896 |
Genitopatellar Syndrome |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |