Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
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Inability to walk, Periventricular nodular heterotopia, Cerebellar hypoplasia |
OMIM:618572 |
Spinocerebellar Ataxia 41 |
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Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Lissencephaly 1 |
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Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Pach... |
OMIM:607432 |
Lissencephaly 3 |
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Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Agyria, Gray matter he... |
OMIM:611603 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Periventricular Nodular Heterotopia 8 |
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Periventricular nodular heterotopia, Cerebellar vermis atrophy |
OMIM:618185 |
Microlissencephaly |
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Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... |
ORPHA:1083 |
Chudley-Mccullough Syndrome |
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Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia |
OMIM:604213 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
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Cerebellar vermis hypoplasia, Periventricular heterotopia, Inability to walk, Unsteady gait, Simp... |
OMIM:618273 |
Lissencephaly, X-Linked, 1 |
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Ataxia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:300067 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
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Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Hydrocephalus, Ataxia, Abnormality of neuronal migration |
OMIM:618709 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
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Hypoplasia of the pons, Lissencephaly, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia |
OMIM:618677 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
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Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc... |
OMIM:224050 |
Joubert Syndrome 24 |
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Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Pachygyria, Polymicrogyria |
OMIM:616654 |
Spinocerebellar Ataxia 11 |
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Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
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Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Cerebella... |
ORPHA:352682 |
Nodular Neuronal Heterotopia |
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Abnormality of neuronal migration |
ORPHA:2149 |
Congenital Muscular Dystrophy Without Intellectual Disability |
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Cerebellar atrophy, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Pachygyria, Cerebe... |
ORPHA:370980 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
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Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
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Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Symmetrical Thalamic Calcifications |
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Ataxia, Abnormality of neuronal migration |
ORPHA:1314 |
Sub-Cortical Nodular Heterotopia |
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Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration |
ORPHA:101029 |
Acalvaria |
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Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... |
ORPHA:945 |
Lissencephaly 5 |
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Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... |
OMIM:615191 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
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Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Poretti-Boltshauser Syndrome |
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Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... |
OMIM:604317 |
Polymicrogyria Due To Tubb2B Mutation |
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Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ... |
ORPHA:300573 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Simplified gyral pattern... |
OMIM:616171 |
Chiari Malformation Type Ii |
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Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotop... |
OMIM:207950 |
Band Heterotopia |
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Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria |
OMIM:600348 |
Joubert Syndrome 30 |
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Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Lissencephaly 6 With Microcephaly |
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Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Microlissencephaly, Li... |
OMIM:616212 |
Leber Congenital Amaurosis |
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Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:65 |
Subependymal Nodular Heterotopia |
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Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... |
ORPHA:101030 |
Mismatch Repair Cancer Syndrome 4 |
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Gray matter heterotopia |
OMIM:619101 |
Bilateral Striopallidodentate Calcinosis |
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Abnormality of neuronal migration |
ORPHA:1980 |
Periventricular Nodular Heterotopia 1 |
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Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neuronal migration |
OMIM:300049 |
Intellectual Developmental Disorder, X-Linked 12 |
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Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Gait disturbance, Abnormality of ne... |
OMIM:300957 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
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Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration |
OMIM:608840 |
Glutathionuria |
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Gray matter heterotopia, Dysdiadochokinesis |
OMIM:231950 |
Familial Infantile Myoclonic Epilepsy |
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Cerebellar atrophy, Periventricular nodular heterotopia, Ataxia, Gait disturbance |
ORPHA:352582 |
Maternal Hyperthermia-Induced Birth Defects |
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Abnormality of neuronal migration |
ORPHA:2216 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Pachygyria, Ataxia, Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:255138 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly |
ORPHA:89844 |
Tetrasomy 18P |
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Gait disturbance, Abnormality of neuronal migration |
ORPHA:3307 |
Hemimegalencephaly |
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Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology |
ORPHA:99802 |
3-Hydroxyisobutyric Aciduria |
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Abnormality of neuronal migration |
OMIM:236795 |
Joubert Syndrome |
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Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra... |
ORPHA:475 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... |
ORPHA:370959 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:2772 |
Neurocutaneous Melanocytosis |
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Meningocele, Abnormality of neuronal migration, Chiari malformation, Aplasia/Hypoplasia of the ce... |
ORPHA:2481 |
Walker-Warburg Syndrome |
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Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Mac... |
ORPHA:899 |
Joubert Syndrome With Oculorenal Defect |
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Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra... |
ORPHA:2318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Encephalocele, Subcortical heterotopia, Agyria, Type II lissencephaly, Hydrocephalus, Gray matter... |
OMIM:614643 |
Oculocerebrocutaneous Syndrome |
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Gray matter heterotopia, Orbital encephalocele, Dandy-Walker malformation |
OMIM:164180 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Abnormality of neuronal migration |
ORPHA:2204 |
Periventricular Nodular Heterotopia 7 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia |
OMIM:617201 |
Autosomal Recessive Primary Microcephaly |
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Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Ataxia, Abnormality of neuronal migration, Cerebellar vermis atrophy, Abnormal neuron morphology |
ORPHA:163681 |
Orofaciodigital Syndrome Xvi |
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Gray matter heterotopia, Inability to walk, Ataxia |
OMIM:617563 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:2518 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Ataxia, Periventricular heterotopia, Hydrocephalus, Chiari type I malformation, Cerebellar hypopl... |
OMIM:618476 |
Joubert Syndrome With Hepatic Defect |
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Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neur... |
ORPHA:1454 |
Thanatophoric Dysplasia Type 2 |
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Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:93274 |
Edinburgh Malformation Syndrome |
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Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
Alkuraya-Kucinskas Syndrome |
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Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Dandy-Walker malfor... |
OMIM:617822 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
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Gray matter heterotopia |
OMIM:617008 |
Hypomelanosis Of Ito |
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Gray matter heterotopia |
OMIM:300337 |
Pseudo-Torch Syndrome 2 |
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Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:617397 |
Neu-Laxova Syndrome |
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Abnormal cortical gyration, Spina bifida, Polymicrogyria, Abnormality of neuronal migration, Macr... |
ORPHA:2671 |
Holoprosencephaly 14 |
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Cerebellar atrophy, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, H... |
OMIM:619895 |
Bilateral Perisylvian Polymicrogyria |
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Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu... |
ORPHA:98889 |
6Q Terminal Deletion Syndrome |
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Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt... |
ORPHA:75857 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Gray matter heterotopia |
OMIM:619694 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... |
ORPHA:2211 |
Vici Syndrome |
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Hypoplasia of the pons, Gray matter heterotopia, Cerebellar hypoplasia |
ORPHA:1493 |
9Q21.13 Microdeletion Syndrome |
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Gray matter heterotopia, Difficulty walking |
ORPHA:531151 |
Neonatal Adrenoleukodystrophy |
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Abnormality of neuronal migration |
ORPHA:44 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Polym... |
ORPHA:157 |
Desmosterolosis |
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Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... |
ORPHA:35107 |
Orofaciodigital Syndrome Type 6 |
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Cerebellar vermis hypoplasia, Ataxia, Abnormality of neuronal migration, Gait disturbance |
ORPHA:2754 |
Thanatophoric Dysplasia |
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Gray matter heterotopia, Hydrocephalus |
ORPHA:2655 |
3C Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality of neuronal migration, Dandy-Wal... |
ORPHA:7 |
Congenital Disorder Of Deglycosylation 2 |
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Gray matter heterotopia, Cerebellar vermis hypoplasia, Polymicrogyria |
OMIM:619775 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Li... |
OMIM:615219 |
Alg11-Cdg |
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Gray matter heterotopia, Ataxia |
ORPHA:280071 |
Coffin-Lowry Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Abnormality of neuronal migration |
ORPHA:192 |
Radio-Tartaglia Syndrome |
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Gray matter heterotopia, Ataxia, Gait imbalance |
OMIM:619312 |
Galloway-Mowat Syndrome |
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Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration |
ORPHA:2065 |
Cerebrofacioarticular Syndrome |
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Gray matter heterotopia, Cerebellar vermis hypoplasia, Ataxia |
ORPHA:314679 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Type II liss... |
OMIM:615287 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Polym... |
ORPHA:228308 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Arima Syndrome |
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Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Gr... |
OMIM:243910 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
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Pachygyria, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Gray matter heterotopia |
OMIM:620024 |
Thanatophoric Dysplasia, Type I |
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Gray matter heterotopia, Hydrocephalus |
OMIM:187600 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
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Abnormality of neuronal migration |
ORPHA:2063 |
Periventricular Nodular Heterotopia 9 |
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Gray matter heterotopia, Broad-based gait, Polymicrogyria, Periventricular nodular heterotopia |
OMIM:618918 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Gray matter heterotopia, Inability to walk |
ORPHA:26791 |
Thanatophoric Dysplasia Type 1 |
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Gray matter heterotopia, Hydrocephalus |
ORPHA:1860 |
Van Maldergem Syndrome 1 |
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Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
Holoprosencephaly |
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Encephalocele, Hydrocephalus, Chorea, Abnormality of neuronal migration, Spinal dysraphism, Holop... |
ORPHA:2162 |
16P13.11 Microdeletion Syndrome |
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Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:261236 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
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Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Loss of ambulation, Gray matter heterotopia, Unsteady gait, Polymicrogyria |
OMIM:214100 |
Acromelic Frontonasal Dysostosis |
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Encephalocele, Gray matter heterotopia, Periventricular nodular heterotopia, Retrocerebellar cyst |
OMIM:603671 |
Aicardi Syndrome |
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Cerebellar vermis hypoplasia, Spina bifida, Gray matter heterotopia, Chiari malformation, Pachygy... |
OMIM:304050 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Polymicrogyria, Abnormality of neuronal migration |
OMIM:608836 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
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Gray matter heterotopia |
OMIM:618797 |
Bohring-Opitz Syndrome |
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Gray matter heterotopia, Dandy-Walker malformation |
OMIM:605039 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Gray matter heterotopia |
OMIM:608624 |
Miller-Dieker Lissencephaly Syndrome |
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Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:247200 |
Van Maldergem Syndrome 2 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Gait disturbance, Abnormality of neuronal migration |
ORPHA:464311 |
Orofaciodigital Syndrome I |
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Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cerebellar ... |
OMIM:311200 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Chiari malformation, Holoprosencephaly |
OMIM:618820 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Abnormality of neuronal migration, Spina bifida |
ORPHA:991 |
Vici Syndrome |
|
Gray matter heterotopia, Cerebellar vermis hypoplasia |
OMIM:242840 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Gray matter heterotopia, Impaired pain sensation |
ORPHA:453499 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:305450 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia, Inability to walk, Impaired pain sensation |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia, Inability to walk, Impaired pain sensation |
ORPHA:352665 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cortical gyration, Hydrocep... |
OMIM:210710 |
Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia... |
OMIM:612289 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Dandy-Wal... |
OMIM:236680 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia |
OMIM:276300 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |