Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Hydrocephalus, Congenital, 1 |
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Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Megalencephaly, Autosomal Dominant |
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Hydrocephalus, Megalencephaly |
OMIM:155350 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
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Polymicrogyria, Hydrocephalus, Megalencephaly, Ventriculomegaly |
OMIM:615938 |
Hydrocephalus, Autosomal Dominant |
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Dandy-Walker malformation, Sagittal craniosynostosis, Hydrocephalus |
OMIM:123155 |
Hydrocephalus With Cerebellar Agenesis |
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Hydrocephalus |
OMIM:307010 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
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Dandy-Walker malformation, Frontal bossing, Orbital craniosynostosis, Hydrocephalus, Dolichocephaly |
ORPHA:1538 |
Polyrrhinia |
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Dilation of lateral ventricles, Abnormal third ventricle morphology |
ORPHA:141091 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
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Subcortical band heterotopia, Pachygyria, Hypoplasia of the corpus callosum, Agyria, Gray matter ... |
OMIM:615411 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... |
OMIM:604317 |
Holoprosencephaly 5 |
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Lobar holoprosencephaly, Holoprosencephaly, Trigonocephaly, Syntelencephaly, Alobar holoprosencep... |
OMIM:609637 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
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Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Cortical dysplasia, Mi... |
OMIM:615412 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
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Hemimegalencephaly, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus cal... |
OMIM:615937 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Dandy-Walker malformation, Flat occiput, Bicoronal synostosis, Brachycephaly, Delayed closure of ... |
OMIM:618736 |
Craniofacial Conodysplasia |
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Hydrocephalus |
ORPHA:85168 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
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Small cerebral cortex, Abnormal cerebral cortex morphology, Abnormal neuron morphology, Abnormal ... |
ORPHA:329228 |
Lissencephaly 1 |
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Subcortical band heterotopia, Pachygyria, Agyria, Abnormal cerebral white matter morphology, Gray... |
OMIM:607432 |
Microlissencephaly |
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Cerebral dysmyelination, Periventricular heterotopia, Simplified gyral pattern, Neuronal loss in ... |
ORPHA:1083 |
Kleeblattschaedel |
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Craniosynostosis, Hydrocephalus, Cloverleaf skull |
OMIM:148800 |
Sub-Cortical Nodular Heterotopia |
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Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... |
ORPHA:101029 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
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Cerebral cortical hemiatrophy, Hydrocephalus, Cerebral cortical atrophy, Subcortical cerebral atr... |
ORPHA:2703 |
Unilateral Hemispheric Polymicrogyria |
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Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia |
ORPHA:101071 |
X-Linked Parkinsonism-Spasticity Syndrome |
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Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy |
ORPHA:363654 |
Alexander Disease |
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Hydrocephalus, Increased CSF protein |
OMIM:203450 |
Chudley-Mccullough Syndrome |
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Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Ventriculomegaly, Polymicrog... |
OMIM:604213 |
Lissencephaly, X-Linked, 1 |
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Death in infancy, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly, Agenesis of corpus ... |
OMIM:300067 |
Band Heterotopia |
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Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Agenesis of corpus... |
OMIM:600348 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
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Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum |
OMIM:300864 |
Polymicrogyria Due To Tubb2B Mutation |
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Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... |
ORPHA:300573 |
Papilloma Of Choroid Plexus |
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Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Lissencephaly 3 |
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Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Gray matter heterotopia, L... |
OMIM:611603 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Abnormal corpus callosum morphology, Ventriculomegaly, Hydrocephalus, Cortical dysplasia, Microce... |
OMIM:618709 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
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Dilated third ventricle, Partial agenesis of the corpus callosum, Plagiocephaly, Brachycephaly, F... |
OMIM:617296 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
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Periventricular heterotopia, Periventricular nodular heterotopia, Progressive microcephaly, Hypop... |
OMIM:608097 |
Intellectual Developmental Disorder, X-Linked 103 |
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Dilation of lateral ventricles, Polymicrogyria |
OMIM:300982 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
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Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Frontal Encephalocele |
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Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Cerebral calcification, D... |
ORPHA:1931 |
Dandy-Walker Syndrome |
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Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the fourth ventricle |
OMIM:220200 |
Fanconi Anemia, Complementation Group R |
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Hydrocephalus, Microcephaly |
OMIM:617244 |
Developmental And Epileptic Encephalopathy 92 |
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Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy |
OMIM:617829 |
Beemer Lethal Malformation Syndrome |
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Hydrocephalus |
OMIM:209970 |
Pineocytoma |
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Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus |
OMIM:617967 |
Periventricular Nodular Heterotopia 7 |
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Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Gray matter heterotopia, ... |
OMIM:617201 |
Crouzon Syndrome With Acanthosis Nigricans |
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Midface retrusion, Craniosynostosis, Hydrocephalus, Brachycephaly |
OMIM:612247 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
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Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Congenital Hydrocephalus |
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Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Frontal bossin... |
ORPHA:2185 |
Miller-Dieker syndrome (MDS) |
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Frontal bossing, Midface retrusion, Lissencephaly, Microcephaly |
DECIPHER:21 |
Hypotonia, Infantile, With Psychomotor Retardation |
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Dilation of lateral ventricles, Hypoplasia of the corpus callosum |
OMIM:616816 |
Periventricular Nodular Heterotopia 8 |
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Periventricular nodular heterotopia, Microcephaly |
OMIM:618185 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Gait disturbance, Lethargy |
ORPHA:79283 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
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Hypoplasia of the corpus callosum, Thick cerebral cortex, Lissencephaly, Periventricular ribbonli... |
OMIM:618677 |
Martsolf Syndrome 2 |
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Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:619420 |
Alg2-Cdg |
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Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... |
ORPHA:79326 |
Glut1 Deficiency Syndrome 1 |
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Paroxysmal dystonia, Paroxysmal lethargy, Ataxia, Confusion, Lethargy |
OMIM:606777 |
16P13.2 Microdeletion Syndrome |
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Dilated third ventricle, Plagiocephaly, Brachycephaly, Cerebral white matter atrophy, Ventriculom... |
ORPHA:500055 |
Developmental And Epileptic Encephalopathy 49 |
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Dandy-Walker malformation, Ventriculomegaly, Frontal bossing, Hydrocephalus, Cerebral calcificati... |
OMIM:617281 |
Gómez-López-Hernández Syndrome |
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Midface retrusion, Hydrocephalus, Turricephaly, Brachycephaly |
ORPHA:1532 |
Atypical Teratoid Rhabdoid Tumor |
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Hydrocephalus, Cerebral calcification |
ORPHA:99966 |
D-2-Hydroxyglutaric Aciduria 1 |
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Frontal bossing, Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, ... |
OMIM:600721 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
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Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... |
OMIM:619517 |
Hemiparkinsonism-Hemiatrophy Syndrome |
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Dilation of lateral ventricles, Cerebral cortical hemiatrophy |
ORPHA:306669 |
Macrocephaly, Benign Familial |
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Frontal bossing, Biparietal narrowing, Dolichocephaly, Ventriculomegaly |
OMIM:153470 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
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Trigonocephaly, Midface retrusion, Dolichocephaly, Ventriculomegaly |
ORPHA:168624 |
X-Linked Intellectual Disability, Wilson Type |
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Dilation of lateral ventricles, Microcephaly, Brachycephaly |
ORPHA:85290 |
Craniotelencephalic Dysplasia |
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Arrhinencephaly, Septo-optic dysplasia, Craniosynostosis, Frontal bossing, Hydrocephalus, Lissenc... |
ORPHA:1528 |
Periventricular Nodular Heterotopia 6 |
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Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Partial agenesis of the corpus callosum, Basal ganglia necrosis, Abnormal CSF pyruvate family ami... |
ORPHA:79243 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
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Type II lissencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Malan Overgrowth Syndrome |
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Plagiocephaly, Ventriculomegaly, Frontal bossing, Scaphocephaly, Dilation of lateral ventricles, ... |
ORPHA:420179 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
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Periventricular nodular heterotopia, Microcephaly |
OMIM:618572 |
Craniofacial Dyssynostosis With Short Stature |
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Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Ventriculomegaly, Frontal bossi... |
OMIM:218350 |
Microphthalmia-Brain Atrophy Syndrome |
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Dilation of lateral ventricles, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy |
ORPHA:77299 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Dystonia, Ataxia, Lethargy |
OMIM:618224 |
Bilateral Striopallidodentate Calcinosis |
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Abnormality of neuronal migration, Microcephaly, Cerebral calcification |
ORPHA:1980 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
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Difficulty walking, Lethargy |
OMIM:613710 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
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Dysgyria, Hydrocephalus, Abnormal cerebral white matter morphology, Gray matter heterotopia, Type... |
ORPHA:352682 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
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Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
Hydrocephalus, Congenital Communicating, 1 |
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Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
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Cerebral white matter hypoplasia, Craniosynostosis, Simplified gyral pattern, Primary microcephal... |
ORPHA:284417 |
Mental Retardation, Autosomal Dominant 48 |
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Dilated fourth ventricle, Polymicrogyria, Dilation of lateral ventricles, Hypoplasia of the corpu... |
OMIM:617751 |
Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Lethargy |
ORPHA:26 |
Lissencephaly 5 |
|
Subcortical band heterotopia, Leukoencephalopathy, Hypoplasia of the corpus callosum, Porencephal... |
OMIM:615191 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Oculo... |
ORPHA:101150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:613154 |
Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus, Calvarial skull defect |
ORPHA:945 |
Homocystinuria Without Methylmalonic Aciduria |
|
Ataxia, Lethargy |
ORPHA:622 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Fried Syndrome |
|
Thickened calvaria, Hydrocephalus, Cerebral calcification |
ORPHA:85335 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Brachycephaly, Unilambdoid synostosis, Ventriculomegaly, Hydrocephalus, Midface re... |
OMIM:618577 |
Early Myoclonic Encephalopathy |
|
Dysphagia, Lethargy |
ORPHA:1935 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Hemimegalencephaly, Pachygyria, Polymicrogyria, Gray matter heterotop... |
ORPHA:99802 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Microcephaly, Cerebral atrophy |
OMIM:300884 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly |
OMIM:303350 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Bradykinesia, Lethargy |
OMIM:618683 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly, Diffuse cerebral atrophy, Microcephaly |
ORPHA:2898 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:300064 |
Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Prominent metopic rid... |
ORPHA:46 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Microcephaly, Cerebral calcification |
ORPHA:1314 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dandy-Walker malformation, Large fontanelles, Dilated fourth ventricle, Small fontanelle, Dilatio... |
ORPHA:3078 |
Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Inability to walk, Lethargy |
ORPHA:314911 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Dandy-Walker malformation, Meningocele, Colpocephaly, Abnormal corpus ca... |
ORPHA:397715 |
Sporadic Fetal Brain Disruption Sequence |
|
Microcephaly, Prominent occiput, Plagiocephaly, Cerebral cortical atrophy |
ORPHA:1665 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Dilation of lateral ventricles, Microcephaly |
OMIM:619278 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Cerebral atrophy, Leukoencephalopathy, Abnormal cerebral white matter morphology, Bilateral gener... |
ORPHA:178469 |
Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Lethargy |
OMIM:617105 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Achondroplasia |
|
Frontal bossing, Midface retrusion, Hydrocephalus, Megalencephaly |
OMIM:100800 |
Greig Cephalopolysyndactyly Syndrome |
|
Metopic synostosis, Trigonocephaly, Craniosynostosis, Ventriculomegaly, Frontal bossing, Scaphoce... |
OMIM:175700 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration, Congenital intracerebral calcification, Microcephaly |
OMIM:236795 |
Bilateral Generalized Polymicrogyria |
|
Diffuse white matter abnormalities, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypo... |
ORPHA:208447 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Plagiocephaly, Partial agenesis of the corpus callosum, Flat occiput, Dysgenesis of the hippocamp... |
ORPHA:300570 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Brachycephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydroc... |
ORPHA:272 |
Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy |
OMIM:617900 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... |
ORPHA:544488 |
Glutamine Deficiency, Congenital |
|
Decreased CSF glutamine concentration, Dilation of lateral ventricles, Hypoplasia of the corpus c... |
OMIM:610015 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Neonatal death, Polymicrogyria, Microcephaly |
OMIM:619602 |
Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Tremor, Inability to walk, Generalized dystonia, Oculog... |
ORPHA:255 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:250972 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Confusion, Dystonia, Ataxia, Lethargy |
ORPHA:71277 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Coma, Drowsiness, Lethargy |
ORPHA:276608 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
1Q21.1 Microduplication Syndrome |
|
Frontal bossing, Hydrocephalus |
ORPHA:250994 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Lethargy |
ORPHA:30925 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Trigonocephaly, Prominent metopic ridge, Brachycephaly |
OMIM:275595 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy |
OMIM:613002 |
Slc35A2-Cdg |
|
Dandy-Walker malformation, Cerebral white matter atrophy, Craniosynostosis, Abnormal cerebral whi... |
ORPHA:356961 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dystonia, Dysphagia, Ataxia, Lethargy |
OMIM:618226 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly |
OMIM:304100 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Drowsiness, Polyphagia, Loss of consciousness, Hypoglycemic coma, Lethargy |
ORPHA:276556 |
Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypoplasia of... |
OMIM:618606 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle... |
OMIM:220220 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification |
ORPHA:73256 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2216 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Frontal bossing, Orbital craniosynostosis, Hydrocephalus, Coronal cr... |
OMIM:112240 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Plagiocephaly, Midface retrusion, Abnormal corpus callosum morphology, Cavum septum pellucidum, F... |
ORPHA:457279 |
Craniosynostosis 6 |
|
Dandy-Walker malformation, Plagiocephaly, Brachycephaly, Craniosynostosis, Abnormal corpus callos... |
OMIM:616602 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Dystonia, Dysphagia, Lethargy |
OMIM:233910 |
Pettigrew Syndrome |
|
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Cerebral calcification, Abnormality o... |
OMIM:304340 |
Craniofacial Dyssynostosis |
|
Craniosynostosis, Frontal bossing, Hydrocephalus, Dolichocephaly, Hypoplasia of the corpus callosum |
ORPHA:1516 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Frontal bossing, Hydrocephalus, Dilation of lateral ventricles, Dolichocephaly, A... |
OMIM:612863 |
Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Lethargy, Truncal ataxia, Intention tremor |
OMIM:130950 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Cavum septum pellucidum, Cerebral atrophy, Dilation of lateral ventricle... |
ORPHA:464738 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Abnormality of the cerebrospinal fluid, Abnormal cerebral white matter m... |
ORPHA:314404 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Lethargy |
OMIM:246900 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Drowsiness, Polyphagia, Loss of consciousness, Hypoglycemic coma, Lethargy |
ORPHA:276575 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Simplified gyral pattern, Periventricular white matter hyperintensities, Hydrocephalus, Microcephaly |
OMIM:619470 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:521390 |
Cach Syndrome |
|
Dysgyria, Cerebral atrophy, Dilation of lateral ventricles, T2 hypointense thalamus, Microcephaly |
ORPHA:135 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Deep white matter hypodensities, Abnormal corpus callosum morphology, Abnormal cerebral white mat... |
ORPHA:565624 |
Paganini-Miozzo Syndrome |
|
Dilation of lateral ventricles |
OMIM:301025 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
N-Acetylglutamate Synthase Deficiency |
|
Coma, Confusion, Lethargy |
OMIM:237310 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Episodic ataxia, Lethargy |
OMIM:312170 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Ventriculomegaly, Pro... |
ORPHA:488627 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Drowsiness, Polyphagia, Loss of consciousness, Hypoglycemic coma, Lethargy |
ORPHA:276580 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Lethargy |
OMIM:618225 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Dysphagia, Opisthotonus, Truncal titubation, Coma, Inability to walk, Craniofacial dyst... |
OMIM:607483 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum... |
ORPHA:2512 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Lethargy |
ORPHA:26792 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Drowsiness, Polyphagia, Loss of consciousness, Hypoglycemic coma, Lethargy |
ORPHA:324575 |
Developmental And Epileptic Encephalopathy 65 |
|
Plagiocephaly, Cerebral atrophy, Microcephaly, Ventriculomegaly |
OMIM:618008 |
Citrullinemia Type Ii |
|
Drowsiness, Hyperlipidemia, Abnormal eating behavior, Tremor, Hyperactivity, Coma, Hypercholester... |
ORPHA:247585 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
Glycerol Kinase Deficiency |
|
Coma, Loss of consciousness, Hypertriglyceridemia, Lethargy |
OMIM:307030 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Polymicrogyria |
OMIM:614483 |
Subependymal Nodular Heterotopia |
|
Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Meningocele, Myelomen... |
ORPHA:101030 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilation of lateral ventricles, Agenesis of corpus callosum |
OMIM:300952 |
Hyperlysinuria With Hyperammonemia |
|
Coma, Lethargy |
OMIM:238750 |
Aicardi Syndrome |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cyst, Dandy-Walk... |
OMIM:304050 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Frontal bo... |
OMIM:615219 |
Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Ventriculomegaly, Progressive microcephaly, Hydrocephalus, Cerebral... |
OMIM:610333 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Pachygyria, Agyria, Dilation ... |
ORPHA:2148 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus c... |
OMIM:225790 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy |
OMIM:618228 |
Mental Retardation, Autosomal Dominant 36 |
|
Plagiocephaly, Ventriculomegaly, Hydrocephalus, Prominent metopic ridge, Hypoplasia of the corpus... |
OMIM:616362 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus |
OMIM:619575 |
Mental Retardation, Autosomal Dominant 13 |
|
Abnormality of neuronal migration, Pachygyria, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:614563 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Brachycephaly, Ventriculomegaly, Alobar holoprosencephaly, Dolichocephaly, Agenesi... |
OMIM:615433 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele |
OMIM:182940 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy |
OMIM:201470 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria, Microcephaly, Abnormal cerebral white matter morphology |
ORPHA:370980 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... |
ORPHA:2182 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Colpocephaly, Polymicrogyria, Midface retrusion, Microcephaly |
OMIM:618731 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Dilation of lateral ventricles, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy |
OMIM:607485 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Central Diabetes Insipidus |
|
Polydipsia, Excessive daytime somnolence, Lethargy |
ORPHA:178029 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Lissencephaly, Ventriculomegaly, Pachygyria, Hydrocephalus, Agyria, Ab... |
OMIM:613153 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Large fontanelles, Frontal bossing, Hydrocephalus, Midface retrusion, Agenesis of corpus callosum... |
OMIM:612940 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Aqueductal stenosis |
OMIM:307000 |
Classic Galactosemia |
|
Postural tremor, Gait disturbance, Dystonia, Gait imbalance, Ataxia, Action tremor, Attention def... |
ORPHA:79239 |
Galactosemia |
|
Postural tremor, Gait disturbance, Dystonia, Gait imbalance, Ataxia, Action tremor, Lethargy |
ORPHA:352 |
Leukoencephalopathy With Vanishing White Matter |
|
Unsteady gait, Gait disturbance, Lethargy |
OMIM:603896 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Simplified g... |
OMIM:619302 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Cerebral atrophy |
ORPHA:397951 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Gait disturbance, Lethargy |
OMIM:236270 |
Lissencephaly 6 With Microcephaly |
|
Partial agenesis of the corpus callosum, Microlissencephaly, Periventricular heterotopia, Simplif... |
OMIM:616212 |
Insulinoma |
|
Polyphagia, Tremor, Coma, Reduced consciousness/confusion, Fluctuations in consciousness, Lethargy |
ORPHA:97279 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Lethargy |
OMIM:605711 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology |
ORPHA:488635 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Drowsiness, Ataxia, Coma, Loss of consciousness, Delirium, Confusion, Lethargy |
ORPHA:927 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hydrocephalus, Fusion of t... |
OMIM:617542 |
Cyclic Vomiting Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Lethargy |
OMIM:500007 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Coma, Loss of consciousness, Lethargy |
ORPHA:247525 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Microlissencephaly, Primary microcephaly, 4-layered lissenceph... |
ORPHA:89844 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Coma, Loss of consciousness, Transient hyperlipidemia, Lethargy |
ORPHA:156 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
Distal Monosomy 10Q |
|
Brachycephaly, Craniosynostosis, Cavum septum pellucidum, Frontal bossing, Prominent metopic ridg... |
ORPHA:96148 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Coma, Lethargy |
ORPHA:28 |
Isolated Brachycephaly |
|
Midface retrusion, Brachycephaly |
ORPHA:35099 |
Crouzon Disease |
|
Brachycephaly, Frontal bossing, Hydrocephalus, Turricephaly, Midface retrusion, Multiple suture c... |
ORPHA:207 |
Cirrhosis, Familial |
|
Lethargy |
OMIM:215600 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Abnormal cerebral cortex morphology, Ventriculomegaly, Frontal bossing... |
ORPHA:163961 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Agenesis of corpus callosum |
ORPHA:459074 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy |
OMIM:610498 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Pyruvate Dehydrogenase Deficiency |
|
Gait disturbance, Dystonia, Tremor, Ataxia, Lethargy |
ORPHA:765 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Lethargy |
OMIM:614299 |
Melanosis, Neurocutaneous |
|
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus |
OMIM:249400 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Megalencephaly, Ventriculomegaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyria |
OMIM:602501 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Abnormal globus pallidus morphology, Brachycephaly, Ventriculomegaly, Hypoplasia o... |
OMIM:618603 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebral white matter hypoplasia, Dilated fourth ventricle, Leukoencephalopathy, Ventriculomegaly... |
ORPHA:572798 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Large fontanelles, Brachycephaly, Craniosynostosis, Abnormality of the septum pellucidum, Hydroce... |
ORPHA:171839 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Ataxia, Lethargy |
OMIM:201100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria, Abnormal periventricular white matter morphology |
OMIM:608840 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Hydrocephalus, Increased circulating gonadotropin level |
ORPHA:759 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Hydrocephalus, Turricephaly, Brachycephaly |
ORPHA:93262 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Gait imbalance, Lethargy |
OMIM:618120 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum |
OMIM:618914 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia, Patent ductus arteriosus |
OMIM:300049 |
Typhoid |
|
Tremor, Ataxia, Coma, Lethargy |
ORPHA:99745 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Muenke Syndrome |
|
Plagiocephaly, Hydrocephalus, Coronal craniosynostosis, Brachycephaly |
ORPHA:53271 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Dysphagia, Head titubation, Dysmetria, Intention tremor, Lethargy |
OMIM:301790 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly |
OMIM:109120 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Primary microcephaly, Periventricular l... |
ORPHA:293725 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Gait disturbance, Ataxia, Lethargy |
OMIM:615838 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia nigra morph... |
ORPHA:2822 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Polymicrogyria, Hydrocephalus, Megalencephaly |
ORPHA:83473 |
Cole-Carpenter Syndrome 2 |
|
Wormian bones, Frontal bossing, Hydrocephalus, Turricephaly, Coronal craniosynostosis, Midface re... |
OMIM:616294 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2204 |
Carnitine Deficiency, Systemic Primary |
|
Coma, Confusion, Excessive daytime somnolence, Lethargy |
OMIM:212140 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Thickened calvaria, Brachycephaly |
ORPHA:178377 |
Myopathy, Congenital, Bailey-Bloch |
|
Midface retrusion, Brachycephaly, Microcephaly, Ventriculomegaly |
OMIM:255995 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Isolated Plagiocephaly |
|
Plagiocephaly, Midface retrusion, Frontal bossing |
ORPHA:35098 |
Congenital Toxoplasmosis |
|
Cerebral calcification, Hydrocephalus, Microcephaly, Ventriculomegaly |
ORPHA:858 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Frontal bossing, Hydrocephalus |
OMIM:613603 |
Orofaciodigital Syndrome Type 14 |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Dila... |
ORPHA:434179 |
Kohlschutter-Tonz Syndrome-Like |
|
Midface retrusion, Brachycephaly, Ventriculomegaly, Dilation of lateral ventricles, Secondary mic... |
OMIM:619229 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Hydrocephalus, Type II lissencephaly, C... |
OMIM:615287 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:183802 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Frontal bossing, Hydrocephalus |
ORPHA:2181 |
Thanatophoric Dysplasia |
|
Cloverleaf skull, Ventriculomegaly, Frontal bossing, Hydrocephalus, Midface retrusion |
ORPHA:2655 |
Glutaric Acidemia I |
|
Dilation of lateral ventricles |
OMIM:231670 |
Susac Syndrome |
|
Gait ataxia, Confusion, Lethargy |
ORPHA:838 |
Bainbridge-Ropers Syndrome |
|
Metopic synostosis, Large fontanelles, Trigonocephaly, Scaphocephaly, Dilation of lateral ventric... |
OMIM:615485 |
Nasu-Hakola Disease |
|
Cerebral calcification, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:2770 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Coma, Lethargy |
ORPHA:289916 |
Craniosynostosis 2 |
|
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal bossing, Turricephal... |
OMIM:604757 |
Mend Syndrome |
|
Dandy-Walker malformation, Midface retrusion, Hydrocephalus |
OMIM:300960 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:261102 |
Carnitine Palmitoyltransferase I Deficiency |
|
Coma, Transient hyperlipidemia, Lethargy |
OMIM:255120 |
Multiple Carboxylase Deficiency |
|
Ataxia, Coma, Lethargy |
ORPHA:148 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Megalencephaly, Thick corpus callosum, Frontal bossing, Pachygyria, Hydrocephalus, Polymicrogyria... |
OMIM:603387 |
Hemochromatosis, Type 2A |
|
Lethargy |
OMIM:602390 |
Mosaic Trisomy 1 |
|
Small anterior fontanelle, Frontal bossing, Polymicrogyria, Dilation of lateral ventricles, Agene... |
ORPHA:1692 |
Familial Lambdoid Synostosis |
|
Plagiocephaly, Flat occiput, Hydrocephalus |
ORPHA:3267 |
Thanatophoric Dysplasia Type 2 |
|
Cloverleaf skull, Holoprosencephaly, Ventriculomegaly, Frontal bossing, Hydrocephalus |
ORPHA:93274 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus |
OMIM:614195 |
Temple Syndrome |
|
Frontal bossing, Hydrocephalus |
OMIM:616222 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly,... |
ORPHA:169154 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
Cog5-Cdg |
|
Dilation of lateral ventricles, Cerebral white matter atrophy, Microcephaly, Diffuse cerebral atr... |
ORPHA:263487 |
Craniosynostosis And Dental Anomalies |
|
Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal craniosynostosis, Scaphocephaly, Turric... |
OMIM:614188 |
Hemochromatosis Type 2 |
|
Lethargy |
ORPHA:79230 |
Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy, Ataxia, Coma, Episodic ataxia |
OMIM:311250 |
1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Frontal bossing, Hydrocephalus, Prominent metopic ridge, Biparietal narrowing, ... |
ORPHA:238769 |
Aicardi-Goutieres Syndrome 9 |
|
Diffuse leukoencephalopathy, Cerebral calcification, Basal ganglia calcification, Dilation of lat... |
OMIM:619487 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Coma, Lethargy |
ORPHA:79312 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy |
OMIM:619386 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Ventriculomegaly, Frontal bossing, Small pituitary gland, Dilation of lateral ventricles, Hypopla... |
OMIM:619479 |
Temple Syndrome |
|
Frontal bossing, Decreased response to growth hormone stimulation test, Hydrocephalus |
ORPHA:254516 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Plagiocephaly, Hypoplasia of the corpus callosum, Microcephaly, Ventriculomegaly |
OMIM:618354 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia, Microcephaly, Cerebral atrophy |
OMIM:300337 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Megalencephaly, Frontal bossing, Wide anterior fontanel, Hydrocephalus, Midface retrusion, Hypopl... |
OMIM:616482 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:164180 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cranial asymmetry, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Scaphoceph... |
OMIM:614886 |
Craniosynostosis 4 |
|
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Frontal bossing, Posterior pla... |
OMIM:600775 |
Williams-Beuren Region Duplication Syndrome |
|
Brachycephaly, Ventriculomegaly, Hydrocephalus, Decreased response to growth hormone stimulation ... |
OMIM:609757 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Coma, Lethargy |
ORPHA:27 |
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy |
|
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus, Posterior fossa cyst at the f... |
OMIM:220219 |
Dihydropyrimidinase Deficiency |
|
Excessive daytime somnolence, Lethargy |
OMIM:222748 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Lethargy |
ORPHA:2089 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy |
ORPHA:95717 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus, Abnormal cerebral white matter morphology |
OMIM:600991 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Loss of consciousness, Coma, Lethargy |
ORPHA:42 |
Warburg Micro Syndrome 3 |
|
Brachycephaly, Ventriculomegaly, Microcephaly, Polymicrogyria, Secondary microcephaly, Hypoplasia... |
OMIM:614222 |
Isovaleric Acidemia |
|
Coma, Lethargy |
OMIM:243500 |
Cebalid Syndrome |
|
Plagiocephaly, Brachycephaly, Platystencephaly, Polymicrogyria, Turricephaly, Midface retrusion, ... |
OMIM:618774 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Brachycephaly |
OMIM:618859 |
Hydrocephalus With Associated Malformations |
|
Hydrocephalus |
OMIM:236640 |
Mental Retardation, Autosomal Dominant 35 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Brachycephaly, Hydrocephalus, Prominent occiput, Decreased response to... |
OMIM:220210 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy |
ORPHA:49827 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Periventricular heterotopia, Pachygyria, Short corpus callosum, Periventri... |
ORPHA:255138 |
Gorlin Syndrome |
|
Frontal bossing, Hydrocephalus, Brachycephaly, Cerebral calcification |
ORPHA:377 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Coma, Opisthotonus, Lethargy |
OMIM:210200 |
Holoprosencephaly 7 |
|
Flat occiput, Parietal bossing, Frontal bossing, Panhypopituitarism, Hydrocephalus, Alobar holopr... |
OMIM:610828 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
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Brachycephaly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral atrophy |
ORPHA:320385 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
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Thin calvarium, Microcephaly, Brachycephaly |
OMIM:122900 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
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Ataxia, Coma, Lethargy |
OMIM:237300 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
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Dandy-Walker malformation, Brachycephaly, Trigonocephaly, Scaphocephaly, Hydrocephalus, Sagittal ... |
ORPHA:459061 |
Walker-Warburg Syndrome |
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Abnormality of neuronal migration, Abnormal cortical gyration, Absent septum pellucidum, Pachygyr... |
ORPHA:899 |
Myxedema |
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Lethargy |
OMIM:255900 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Abnormality of neuronal migration, Hyperlipidemia, Cerebral calcification, Pachygyria, Renal tubu... |
ORPHA:157 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Polymicrogyria, Type II lissencephaly, Leukoencephalopathy, Hydrocephalus |
OMIM:615181 |
Pyruvate Dehydrogenase E3 Deficiency |
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Ataxia, Lethargy |
ORPHA:2394 |
Pallister-Hall-Like Syndrome |
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Hypothalamic hamartoma, Hydrocephalus, Anterior hypopituitarism |
OMIM:241800 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
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Hydrocephalus |
ORPHA:2183 |
L1 Syndrome |
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Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
Potocki-Shaffer Syndrome |
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Turricephaly, Wormian bones, Brachycephaly, Parietal foramina |
OMIM:601224 |
6P22 Microdeletion Syndrome |
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Hydrocephalus |
ORPHA:251046 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Limb dystonia, Oculogyric cris... |
OMIM:608643 |
Kleefstra Syndrome 2 |
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Plagiocephaly, Midface retrusion, Microcephaly |
OMIM:617768 |
Idiopathic Intracranial Hypertension |
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Lethargy |
ORPHA:238624 |
Krabbe Disease |
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Hydrocephalus, Increased CSF protein, Diffuse cerebral atrophy |
OMIM:245200 |
Holocarboxylase Synthetase Deficiency |
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Ataxia, Coma, Lethargy |
ORPHA:79242 |
Thanatophoric Dysplasia, Type I |
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Frontal bossing, Hydrocephalus, Cloverleaf skull |
OMIM:187600 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Abnormality of neuronal migration, Microcephaly |
ORPHA:2772 |
Scrub Typhus |
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Tremor, Lethargy, Reduced consciousness/confusion |
ORPHA:83317 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Tremor, Coma, Drowsiness, Lethargy |
ORPHA:263455 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Lethargy |
OMIM:619064 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Coma, Confusion, Lethargy |
OMIM:238970 |
Weiss-Kruszka Syndrome |
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Colpocephaly, Ventriculomegaly, Prominent metopic ridge, Hypoplasia of the corpus callosum, Agene... |
OMIM:618619 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
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Large basal ganglia, Absent septum pellucidum, Polymicrogyria, Cerebral atrophy, Hypoplasia of th... |
ORPHA:88616 |
Maple Syrup Urine Disease |
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Ataxia, Coma, Lethargy |
OMIM:248600 |
Poretti-Boltshauser Syndrome |
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Gray matter heterotopia, Abnormal periventricular white matter morphology |
OMIM:615960 |
Tetrasomy 18P |
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Abnormality of neuronal migration, Microcephaly |
ORPHA:3307 |
Nephronophthisis 18 |
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Hydrocephalus |
OMIM:615862 |
Acromelic Frontonasal Dysostosis |
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Periventricular nodular heterotopia, Hypopituitarism, Gray matter heterotopia, Hypoplasia of the ... |
OMIM:603671 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
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Holoprosencephaly, Agenesis of corpus callosum, Microcephaly, Brachycephaly |
OMIM:610680 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
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Brachycephaly, Hypoplasia of the corpus callosum, Microcephaly, Ventriculomegaly |
OMIM:300958 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
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Lethargy |
OMIM:618232 |
Chiari Malformation Type Ii |
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Myelomeningocele, Spina bifida, Hydrocephalus, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:207950 |
Edinburgh Malformation Syndrome |
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Frontal bossing, Hydrocephalus |
ORPHA:1895 |
Acquired Partial Lipodystrophy |
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Lymphocytosis |
ORPHA:79087 |
6Q25 Microdeletion Syndrome |
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Plagiocephaly, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly |
ORPHA:251056 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Ventriculomegaly, Hydrocephalus, Abnormal cerebral white matter morphology, Abnormal periventricu... |
OMIM:618476 |
Coach Syndrome 2 |
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Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive |
OMIM:617718 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
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Gray matter heterotopia, Microcephaly |
OMIM:617008 |
Focal Facial Dermal Dysplasia Type Iv |
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Hydrocephalus, Microcephaly |
ORPHA:398189 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Partial agenesis of the corpus callosum, Lissencephaly, Pachygyria, Hypoplasia of the corpus call... |
OMIM:614643 |
Peho Syndrome |
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Midface retrusion, Ventriculomegaly, Microcephaly, Porencephalic cyst, Hydrocephalus, Biparietal ... |
ORPHA:2836 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Hydrocephalus |
OMIM:601794 |
Ogden Syndrome |
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Torticollis, Shuffling gait, Excessive daytime somnolence, Lethargy |
ORPHA:276432 |
Osteopetrosis, Autosomal Recessive 7 |
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Dilation of lateral ventricles, Hydrocephalus |
OMIM:612301 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Brachycephaly, Frontal bossing, Wide anterior fontanel, Hydrocephalus, Coronal craniosynostosis, ... |
OMIM:207410 |
Cardiofaciocutaneous Syndrome 4 |
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Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology |
OMIM:615280 |
Bresek Syndrome |
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Plagiocephaly, Hydrocephalus, Microcephaly |
ORPHA:85284 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Frontal bossing, Hydrocephalus |
OMIM:300863 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
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Abnormality of neuronal migration |
OMIM:614887 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Frontal bossing, Hydrocephalus, Polymicrogyria, Ventriculomegaly |
ORPHA:60040 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... |
OMIM:308240 |
Desmosterolosis |
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Abnormality of neuronal migration, Abnormal cortical gyration, Patent ductus arteriosus, Absent s... |
ORPHA:35107 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Hypoplasia of the corpus callosum, Patent ductus arteriosus, Periventricular heterotopia |
OMIM:618974 |
Methylcobalamin Deficiency Type Cble |
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Drowsiness, Loss of consciousness, Excessive daytime somnolence, Lethargy |
ORPHA:2169 |
Apert Syndrome |
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Brachyturricephaly, Cloverleaf skull, Large fontanelles, Acrobrachycephaly, Absent septum pelluci... |
ORPHA:87 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Diffuse white matter abnormalities, Agenesis of corpus callosum, Polymicrogyria, Hydrocephalus, G... |
ORPHA:370959 |
Linear Nevus Sebaceus Syndrome |
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Dandy-Walker malformation, Plagiocephaly, Ventriculomegaly, Frontal bossing, Biparietal narrowing... |
ORPHA:2612 |
Intellectual Developmental Disorder, X-Linked 12 |
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Abnormality of neuronal migration, Microcephaly, Abnormal cerebral white matter morphology |
OMIM:300957 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Choroid plexus cyst, Decreased calvarial ossification, Ventriculomegaly, Hydrocephalus, Dolichoce... |
OMIM:617866 |
Hypercalcemia, Infantile, 1 |
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Lethargy |
OMIM:143880 |
Intellectual Developmental Disorder, X-Linked 30 |
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Hydrocephalus, Microcephaly |
OMIM:300558 |
Prader-Willi Syndrome Due To Translocation |
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Flat occiput, Anterior pituitary hypoplasia, Dilation of lateral ventricles, Decreased response t... |
ORPHA:177907 |
Weaver Syndrome |
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Dilation of lateral ventricles, Absent septum pellucidum |
OMIM:277590 |
Muscle-Eye-Brain Disease |
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Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Dilation of lateral ventricles, Pachygyria, Brachycephaly |
OMIM:263520 |
Alkuraya-Kucinskas Syndrome |
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Plagiocephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Lissen... |
OMIM:617822 |
Pseudo-Torch Syndrome 2 |
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Patent ductus arteriosus, Polymicrogyria, Cerebral calcification, Gray matter heterotopia, Microc... |
OMIM:617397 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Abnormality of neuronal migration, Hyperlipidemia, Cerebral calcification, Pachygyria, Renal tubu... |
ORPHA:228308 |
Mental Retardation, Buenos Aires Type |
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Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly |
OMIM:249630 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
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Plagiocephaly, Brachycephaly, Thick corpus callosum, Prominent occiput, Dolichocephaly, Hypoplasi... |
OMIM:618672 |
Acute Monoblastic/Monocytic Leukemia |
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Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia |
ORPHA:514 |
Infantile Sialic Acid Storage Disease |
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Hydrocephalus, Cerebral atrophy |
OMIM:269920 |
Medulloblastoma |
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Cerebellar ataxia associated with quadrupedal gait, Dysmetria, Intention tremor, Progressive cere... |
ORPHA:616 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Lethargy |
OMIM:614857 |
Aase-Smith Syndrome I |
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Dandy-Walker malformation, Hydrocephalus |
OMIM:147800 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Coma, Lethargy |
OMIM:201450 |
Meningococcal Meningitis |
|
Lethargy, Drowsiness, Reduced consciousness/confusion |
ORPHA:33475 |
Meckel Syndrome, Type 4 |
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Dandy-Walker malformation, Meningocele, Anencephaly, Hydrocephalus, Hypoplasia of the corpus call... |
OMIM:611134 |
Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Hydroceph... |
ORPHA:1647 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Wormian bones, Frontal bossing, Turricephaly, Midface retrusion |
ORPHA:2050 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy |
OMIM:600649 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Lissencephaly, Progressive microcephaly, Hydrocephalus, Agyria, Type II lissencephaly, Agenesis o... |
OMIM:615249 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Coma, Lethargy |
OMIM:251000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Ventriculomegaly, Hydrocephalus, Polymicrogyria, Agyria, Cerebral calcification, Hypoplasia of th... |
OMIM:616538 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Plagiocephaly, Microcephaly, Abnormal cerebral white matter morphology, Hypoplasia of the corpus ... |
OMIM:617481 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus |
OMIM:613776 |
Glutaric Acidemia Type 3 |
|
Lethargy |
ORPHA:35706 |
Apert Syndrome |
|
Brachyturricephaly, Megalencephaly, Large fontanelles, Midface retrusion, Acrobrachycephaly, Abse... |
OMIM:101200 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Functioning Gonadotropic Adenoma |
|
Abnormal prolactin level, Adrenocorticotropic hormone deficiency, Pituitary hypothyroidism, Incre... |
ORPHA:91348 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Dandy-Walker malformation, Skull asymmetry, Hydrocephalus, Lissencephaly, Microcephaly |
OMIM:612938 |
Propionic Acidemia |
|
Dystonia, Coma, Lethargy |
OMIM:606054 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Dystonia, Ataxia, Lethargy |
OMIM:618321 |
|