Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Ventriculomegaly, Primary microcephaly, Cerebellar hypoplasia, Respiratory distress, Agenesis of ... |
ORPHA:171703 |
Chudley-Mccullough Syndrome |
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Gray matter heterotopia, Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydroceph... |
OMIM:604213 |
Lissencephaly 4 |
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Wide nasal bridge, Primary microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Lissenc... |
OMIM:614019 |
Lissencephaly 3 |
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Gray matter heterotopia, Hypoplasia of the brainstem, Ventriculomegaly, Agyria, Cerebellar vermis... |
OMIM:611603 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
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Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Lissencephaly, ... |
OMIM:610031 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
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Hypoplasia of the brainstem, Simplified gyral pattern, Thin corpus callosum, Fusion of the caudat... |
OMIM:614039 |
Hydrocephalus, Congenital, 1 |
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Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Microcephaly 5, Primary, Autosomal Recessive |
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Small cerebral cortex, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, Microce... |
OMIM:608716 |
Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
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Dilated fourth ventricle, Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly... |
OMIM:615771 |
Polymicrogyria Due To Tubb2B Mutation |
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Gray matter heterotopia, Perisylvian polymicrogyria, Cavum septum pellucidum, Lateral ventricle d... |
ORPHA:300573 |
Sub-Cortical Nodular Heterotopia |
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Subcortical heterotopia, Abnormality of neuronal migration, Abnormal cerebral cortex morphology, ... |
ORPHA:101029 |
Microcephaly 17, Primary, Autosomal Recessive |
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Hypoplasia of the brainstem, Ventriculomegaly, Primary microcephaly, Simplified gyral pattern, Ce... |
OMIM:617090 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
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Hypoplasia of the brainstem, Prominent nose, Simplified gyral pattern, Bulbous nose, Microcephaly... |
OMIM:618492 |
Ventriculomegaly And Arthrogryposis |
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Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
Schizencephaly |
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Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum |
OMIM:269160 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Agenesis of corpus callosum, Abno... |
OMIM:617542 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
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Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Megalencephaly, Autosomal Dominant |
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Hydrocephalus |
OMIM:155350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Respiratory insufficiency, Hypoplasia of the brainstem, Cerebellar dysplasia, Ventriculomegaly, C... |
OMIM:613153 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
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Periventricular cysts, Ventriculomegaly, Abnormal brainstem morphology, Abnormal cerebellum morph... |
ORPHA:255182 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Congenital Neuronal Ceroid Lipofuscinosis |
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Respiratory failure, Ventriculomegaly, Wide nasal bridge, Cerebellar hypoplasia, Central sleep ap... |
ORPHA:168486 |
Lissencephaly, X-Linked, 1 |
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Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum |
OMIM:300067 |
Pontocerebellar Hypoplasia, Type 15 |
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Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Hydrocephalus, Part... |
OMIM:619302 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
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Ventriculomegaly, Thin corpus callosum, Narrow nasal bridge, Anteverted nares, Probst bundles, Ag... |
OMIM:618286 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
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Hydrocephalus |
OMIM:600257 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Hypoplasia of the brainstem, Polymicrogyria, Optic nerve hypoplasia, Dysplastic corpus callosum, ... |
ORPHA:250972 |
Lissencephaly Due To Tuba1A Mutation |
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Dilated fourth ventricle, Hypoplasia of the brainstem, Perisylvian polymicrogyria, Ventriculomega... |
ORPHA:171680 |
Craniofacial Conodysplasia |
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Hydrocephalus |
ORPHA:85168 |
Band Heterotopia |
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Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Subcortic... |
OMIM:600348 |
Masa Syndrome |
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Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:2466 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Bronchiectasis, Respiratory distress, Lissencephaly, Abnormal mucociliary clearance, Hypoplasia o... |
OMIM:619466 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Ventriculomegaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Pneumonia, Agenesis ... |
ORPHA:85179 |
Orofaciodigital Syndrome Xv |
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Molar tooth sign on MRI, Wide nasal bridge, Ventriculomegaly, Anteverted nares, Agenesis of corpu... |
OMIM:617127 |
Developmental And Epileptic Encephalopathy 88 |
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Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Progressive microcephaly, Partial ... |
OMIM:618959 |
Cerebrooculofacioskeletal Syndrome 3 |
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Cerebellar hypoplasia, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616570 |
Epilepsy, Progressive Myoclonic, 9 |
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Simplified gyral pattern, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:616540 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
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Ventriculomegaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Bulbous nose, D... |
ORPHA:262767 |
Microlissencephaly |
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Cerebral cortical atrophy, Subcortical heterotopia, Periventricular heterotopia, Ventriculomegaly... |
ORPHA:1083 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Mismatch Repair Cancer Syndrome 4 |
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Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Lissencephaly 6 With Microcephaly |
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Periventricular heterotopia, Ventriculomegaly, Simplified gyral pattern, Lissencephaly, Microliss... |
OMIM:616212 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Prominent nose, Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Hyp... |
OMIM:616171 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum |
ORPHA:401830 |
Pontocerebellar Hypoplasia, Type 14 |
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Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the p... |
OMIM:619301 |
Autosomal Recessive Spastic Paraplegia Type 67 |
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Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum |
ORPHA:401820 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
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Hypoplasia of the brainstem, Ventriculomegaly, Lissencephaly, Cerebellar atrophy, Microcephaly, C... |
OMIM:618730 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Corpus Callosum, Agenesis Of |
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Microcephaly, Agenesis of corpus callosum |
OMIM:217990 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Molar tooth sign on MRI, Wide nasal bridge, Cerebral atrophy, Hypoplasia of the corpus callosum, ... |
ORPHA:166024 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Periventricular cysts, Hypoplasia of the brainstem, Periventricular heterotopia, Ventriculomegaly... |
ORPHA:255138 |
Microcephaly 10, Primary, Autosomal Recessive |
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Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume, Primary microcephaly, Sim... |
OMIM:615095 |
Autosomal Recessive Primary Microcephaly |
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Hypoplasia of the frontal lobes, Gray matter heterotopia, Ventriculomegaly, Microcephaly, Pachygy... |
ORPHA:2512 |
Mirror Movements 1 |
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Agenesis of corpus callosum |
OMIM:157600 |
Lissencephaly 9 With Complex Brainstem Malformation |
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Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Hypoplastic anterior commissure, C... |
OMIM:618325 |
Microhydranencephaly |
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Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Hydranencephaly, Microcepha... |
OMIM:605013 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Wide nose, Abnormality of neuronal migration, Wide nasal bridge, Primary microcephaly, 4-layered ... |
ORPHA:89844 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
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Respiratory insufficiency, Periventricular leukomalacia, Cerebellar atrophy, Agenesis of corpus c... |
OMIM:618324 |
Hydrocephalus, Autosomal Dominant |
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Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Craniotelencephalic Dysplasia |
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Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... |
ORPHA:1528 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
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Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Partial agenesis of ... |
OMIM:304100 |
3Q13 Microdeletion Syndrome |
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Anteverted nares, Wide nasal bridge, Agenesis of corpus callosum |
ORPHA:1621 |
Masa Syndrome |
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Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
Warburg Micro Syndrome 1 |
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Enlarged sylvian cistern, Perisylvian polymicrogyria, Wide nasal bridge, Cerebellar hypoplasia, M... |
OMIM:600118 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
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Hypoplasia of the corpus callosum, Broad nasal tip, Agenesis of corpus callosum |
OMIM:612948 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
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Agenesis of corpus callosum |
OMIM:618197 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
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Agenesis of corpus callosum |
ORPHA:85334 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
Microcephaly 16, Primary, Autosomal Recessive |
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Simplified gyral pattern, Agenesis of corpus callosum, Primary microcephaly |
OMIM:616681 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
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Hypoplastic anterior commissure, Agenesis of corpus callosum, Dysgenesis of the basal ganglia, Hy... |
OMIM:600638 |
Papilloma Of Choroid Plexus |
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Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Hypoplasia of the brainstem, Normal pressure hydrocephalus, Lateral ventricle dilatation, Primary... |
ORPHA:300570 |
Hydrolethalus Syndrome 2 |
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Molar tooth sign on MRI, Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
Craniotelencephalic Dysplasia |
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Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell... |
OMIM:218670 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
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Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Coach Syndrome 2 |
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Molar tooth sign on MRI, Apneic episodes in infancy, Hydrocephalus, Agenesis of corpus callosum, ... |
OMIM:619111 |
Peho-Like Syndrome |
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Ventriculomegaly, Lissencephaly, Short nose, Progressive microcephaly, Cerebellar atrophy, Pachyg... |
OMIM:617507 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Basal ganglia gliosis, Ventriculomegaly, Recurrent aspiration pneumonia, Lateral ventricle dilata... |
ORPHA:79243 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Hypoplas... |
ORPHA:370959 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
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Bulbous nose, Depressed nasal bridge, Microcephaly, Frontal cortical atrophy, Parietal cortical a... |
OMIM:618766 |
Oculocerebrocutaneous Syndrome |
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Gray matter heterotopia, Orbital encephalocele, Cleft ala nasi, Agenesis of corpus callosum, Hypo... |
OMIM:164180 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Ventriculomegaly, Wide nasal bridge, Basal ganglia cysts, Apneic episodes precipitated by illness... |
OMIM:312170 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
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Ventriculomegaly, Wide nasal bridge, Hydrocephalus, Short nose, Anteverted nares, Hypoplasia of t... |
OMIM:618577 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
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Chiari type I malformation, Agenesis of corpus callosum |
ORPHA:459074 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
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Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Beemer Lethal Malformation Syndrome |
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Hydrocephalus |
OMIM:209970 |
Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity |
OMIM:300271 |
Lissencephaly 7 With Cerebellar Hypoplasia |
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Cerebellar hypoplasia, Agyria, Lissencephaly, Microcephaly, Neonatal death, Agenesis of corpus ca... |
OMIM:616342 |
Pineocytoma |
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Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Gaba-Transaminase Deficiency |
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Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:613163 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus, Lissencephaly, Type II... |
OMIM:615249 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Lateral ventricle dilatation, Agenesis of corpus callosum, Optic nerve hypoplasia, Spina bifida o... |
OMIM:618736 |
Combined Oxidative Phosphorylation Deficiency 50 |
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Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
Lissencephaly, X-Linked, 2 |
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Ventriculomegaly, Wide nasal bridge, Lissencephaly, Pachygyria, Prominent nasal bridge, Agenesis ... |
OMIM:300215 |
Spinocerebellar Ataxia 23 |
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Cerebellar atrophy, Agenesis of corpus callosum |
OMIM:610245 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker... |
OMIM:225790 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Abnormal periventricular white matter morphology, Dilated fourth ventricle, Ventriculomegaly, Lat... |
OMIM:613443 |
Chiari Malformation Type Ii |
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Gray matter heterotopia, Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Cerv... |
OMIM:207950 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Thin corpus callosum, Optic nerve hypoplasia, Pachygyria, A... |
ORPHA:572013 |
Combined Oxidative Phosphorylation Deficiency 2 |
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Patent ductus arteriosus, Neonatal death, Agenesis of corpus callosum, Mild fetal ventriculomegaly |
OMIM:610498 |
Glutathionuria |
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Asthma, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Joubert Syndrome 3 |
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Neonatal breathing dysregulation, Molar tooth sign on MRI, Lateral ventricle dilatation, Episodic... |
OMIM:608629 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
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Depressed nasal bridge, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:615286 |
Hydrocephalus, Congenital, X-Linked |
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Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Absent septum pellucidum, Age... |
OMIM:307000 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
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Reduced cerebral white matter volume, Ventriculomegaly, Cerebral hypoplasia, Respiratory distress... |
OMIM:617977 |
Microcephaly 3, Primary, Autosomal Recessive |
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Small cerebral cortex, Prominent nose, Primary microcephaly, Simplified gyral pattern, Partial ag... |
OMIM:604804 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
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Cerebral cortical atrophy, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, Hyp... |
OMIM:617669 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
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Agenesis of corpus callosum |
OMIM:619548 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Lissencephaly, Optic nerve hypoplasia, Microcephaly, Cerebellar atrophy, Dysplastic corpus callos... |
OMIM:614833 |
Joubert Syndrome With Renal Defect |
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Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Apnea, Abnor... |
ORPHA:220497 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
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Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Ventriculomegaly, Abnormal brainstem morphology, Episodic tachypnea, Hydrocephalus, Apneic episod... |
ORPHA:163961 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
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Hydrocephalus |
ORPHA:2703 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
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Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Absent septum pellucidum, Agenesis of corp... |
ORPHA:2182 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Agenesis of corpus callosum, Microcephaly, Cerebral atrophy |
OMIM:274270 |
Arnold-Chiari Malformation Type Ii |
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Meningocele, Myelomeningocele, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Brain stem c... |
ORPHA:1136 |
Imagawa-Matsumoto Syndrome |
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Wide nasal ridge, Agenesis of corpus callosum, Polymicrogyria |
OMIM:618786 |
Baraitser-Winter Syndrome 2 |
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Ventriculomegaly, Lissencephaly, Secondary microcephaly, Pachygyria, Agenesis of corpus callosum |
OMIM:614583 |
Greig Cephalopolysyndactyly Syndrome |
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Hydrocephalus, Wide nasal bridge, Agenesis of corpus callosum |
ORPHA:380 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
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Underdeveloped nasal alae, Wide nose, Wide nasal bridge, Bifid nasal tip, Abnormal nasal bone mor... |
ORPHA:521308 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Lethal Osteosclerotic Bone Dysplasia |
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Depressed nasal ridge, Respiratory distress, Short nose, Dyspnea, Microcephaly, Anteverted nares,... |
ORPHA:1832 |
Fetal Akinesia Syndrome, X-Linked |
|
Arrhinencephaly, Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia |
OMIM:614173 |
Glutamine Deficiency, Congenital |
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Lateral ventricle dilatation, Wide nasal bridge, Short nose, Apnea, Depressed nasal bridge, Hypop... |
OMIM:610015 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
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Abnormal dentate nucleus morphology, Lateral ventricle dilatation, Thin corpus callosum, Partial ... |
OMIM:619517 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Craniofacial Dyssynostosis With Short Stature |
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Patent ductus arteriosus, Ventriculomegaly, Hydrocephalus, Chiari type I malformation, Hypoplasia... |
OMIM:218350 |
Subependymal Nodular Heterotopia |
|
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia... |
ORPHA:101030 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Apnea, Abnor... |
ORPHA:220493 |
Pontocerebellar Hypoplasia, Type 11 |
|
Cerebellar hypoplasia, Hypoplasia of the pons, Microcephaly, Hypoplasia of the corpus callosum, B... |
OMIM:617695 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Co... |
OMIM:619955 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
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Ventriculomegaly, Abnormal globus pallidus morphology, Microcephaly, Hypoplasia of the corpus cal... |
OMIM:618603 |
Pontocerebellar Hypoplasia Type 2 |
|
Hypoplasia of the brainstem, Hypoplasia of the ventral pons, Ventriculomegaly, Abnormal cortical ... |
ORPHA:2524 |
Glycine Encephalopathy |
|
Agenesis of corpus callosum |
OMIM:605899 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occulta, Microcephaly, Ce... |
OMIM:616602 |
6Q25 Microdeletion Syndrome |
|
Wide nasal bridge, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:251056 |
Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum |
ORPHA:2508 |
Foxg1 Syndrome |
|
Abnormal respiratory system physiology, Progressive microcephaly, Abnormal corpus callosum morpho... |
ORPHA:561854 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Hyperintensity of cerebral white matter on MRI, Prim... |
ORPHA:500144 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Ventriculomegaly, Short nose, Chiari type I malformation, Anteverted nares, Hypoplasia of the cor... |
OMIM:613735 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cer... |
ORPHA:86822 |
Joubert Syndrome 23 |
|
Apnea, Dysplastic corpus callosum, Cerebellar dysplasia, Tachypnea |
OMIM:616490 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Prominent nose, Ventriculomegaly, Cerebellar hypoplasia, Diffuse cerebral atrophy, Recurrent pneu... |
OMIM:214150 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Gray matter heterotopia, Subcortical heterotopia, Hypoplasia of the brainstem, Ventriculomegaly, ... |
OMIM:614643 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Wide nasal bridge, Bifid nose, Short colu... |
OMIM:136760 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Dilated fourth ventricle, Tracheobronchomalacia, Hypoplasia of the brai... |
OMIM:617751 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the corpus call... |
OMIM:607131 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Ventriculomegaly, Cavum septum pellucidum, Partial agenesis of the corpus callosum, Sleep apnea, ... |
OMIM:619074 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Progressive microcephaly, Depressed nasal bridge, Cerebellar atrophy, Dandy-Walker ma... |
ORPHA:438178 |
Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Ventriculomegaly, Wide nasal bridge, Lissencephaly, Short nose, Microce... |
OMIM:243310 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Wide nasal bridge, Short nose, Depressed nasal bridge, Anteverted nares, Cerebral atrophy, Cerebe... |
OMIM:616430 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:615433 |
Holoprosencephaly 14 |
|
Gray matter heterotopia, Periventricular heterotopia, Ventriculomegaly, Aqueductal stenosis, Prob... |
OMIM:619895 |
Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum |
ORPHA:238722 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Ventriculomegaly, Wide nasal bridge, Short nose, Restrictive ventilatory defect, Diffuse white ma... |
OMIM:218000 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Ventriculomegaly, Molar tooth sign on MRI, Apnea, Superior cerebellar dy... |
OMIM:617622 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Respiratory insufficiency, Abnormal periventricular white matter morphology, Ventriculomegaly, Ce... |
OMIM:616900 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Absent nares, Aplasia/Hypoplasia involving the nose, Respir... |
ORPHA:990 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hypoplasia of the brainstem, Encephalocele, Ventriculomegaly, Cerebellar dysplasia, Cerebellar hy... |
OMIM:613150 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Wide nasal bridge, Lateral ventricle dilatation, Thin corpus callosum, Short nose, Broad nasal ti... |
OMIM:615716 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Periventricular heterotopia, Lateral ventricle dilatation, Thin corpus callosum, Short nose, Depr... |
OMIM:614105 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Leukoencephalopathy, Dilated third ventricle, Prominent nose, Lateral ventricle dilatation, Simpl... |
OMIM:619244 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Primary microcephaly, Partial a... |
OMIM:616819 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Ventriculomegaly, Wide nasal bridge, Simplified gyral pattern, Short nose, Recurrent pneumonia, M... |
OMIM:619179 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Respiratory insufficiency, Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Agy... |
OMIM:253800 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventriculomegaly, Microcephaly, Pachygyria, Agenesis of corpus callosum |
ORPHA:452 |
Even-Plus Syndrome |
|
Depressed nasal ridge, Short nose, Bifid nasal tip, Dysplastic corpus callosum, Agenesis of corpu... |
OMIM:616854 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Retrocerebellar cyst, Gray matter heterotopia, Encephalocele, ... |
OMIM:603671 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Amish Lethal Microcephaly |
|
Ventriculomegaly, Spina bifida, Lissencephaly, Microcephaly, Agenesis of corpus callosum, Cerebel... |
ORPHA:99742 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Retrocerebellar cyst, Encephalocele, Ventriculomegaly, Bifid nose, Hypoplasia of the... |
ORPHA:1827 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Arrhinencephaly, Occipital encephalocele, Agenesis of cerebellar vermis,... |
OMIM:614815 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Agenesis of corpus callosum |
OMIM:225040 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Ce... |
OMIM:618476 |
Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Ventriculomegaly, Cerebellar hypop... |
ORPHA:899 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Wide nasal bridge, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:175700 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Primary microcephaly, Microcephaly, Anteverted nares, Agenesis of corpus callosum, Cerebellar ver... |
ORPHA:466688 |
Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Short nose, Anteverted nares, Hypoplasia of the corpus callosum, Agenesis of co... |
OMIM:618619 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Ventriculomegaly, Hydrocephalus, Microcephaly, Anteverted nares, Hypoplasia of the corpus callosu... |
OMIM:616362 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne... |
OMIM:617914 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Agenesis of corpus callosum, Cerebral atrophy |
OMIM:600329 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Agenesis of corpus callosum, Caudate atrophy |
OMIM:618238 |
4Q21 Microdeletion Syndrome |
|
Depressed nasal bridge, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:238750 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Hypointensity of cerebral white matter on MRI, Anteverted nares, Microcephaly |
ORPHA:46 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Lissencephaly, Depressed nasal bridge, Microcephaly, Hypoplasia of the ... |
OMIM:618142 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Abnormal periventricular white matter morphology, Cerebral cortical atrophy, Degeneration of the ... |
OMIM:604360 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Cerebellar hypoplasia, Respiratory distress, Short nose, Secondary microcephaly, Cerebral white m... |
OMIM:615042 |
Holoprosencephaly 11 |
|
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum |
OMIM:614226 |
Vici Syndrome |
|
Gray matter heterotopia, Cerebral cortical atrophy, Cerebellar hypoplasia, Hypoplasia of the pons... |
ORPHA:1493 |
Microcephaly, Amish Type |
|
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Pri... |
OMIM:607196 |
Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum |
OMIM:615314 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Microcephaly, Agenesis of corpus callosum |
ORPHA:1496 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Respiratory distress, Abnormal corpus striatum morphology |
ORPHA:238329 |
17Q21.31 Microduplication Syndrome |
|
Microcephaly, Anteverted nares, Short nose |
ORPHA:217340 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Ventriculomegaly, Short nose, Recurrent pneumonia, Microcephaly, Hypoplasia of the corpus callosum |
ORPHA:1495 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Short columella, Microcephaly, Agenesis of corpus callosum |
OMIM:619989 |
Miller-Dieker Syndrome |
|
Cerebral cortical atrophy, Lissencephaly, Short nose, Anteverted nares, Hypoplasia of the corpus ... |
ORPHA:531 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Ventriculomegaly, Thin corpus callosum, Cerebellar vermis hypoplasia, Sh... |
OMIM:619775 |
5Q14.3 Microdeletion Syndrome |
|
Ventriculomegaly, Optic nerve hypoplasia, Short nose, Anteverted nares, Hypoplasia of the corpus ... |
ORPHA:228384 |
17P13.3 Microduplication Syndrome |
|
Hypoplasia of the corpus callosum, Short nose, Ventriculomegaly, Wide nose |
ORPHA:217385 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Gray matter heterotopia, Hypoplasia of the brainstem, Cerebellar hemisphere hypoplasia, Ventricul... |
OMIM:615287 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Maternal Uniparental Disomy Of Chromosome X |
|
Depressed nasal bridge, Microcephaly, Agenesis of corpus callosum |
ORPHA:261519 |
Desmosterolosis |
|
Patent ductus arteriosus, Abnormality of neuronal migration, Abnormal cortical gyration, Ventricu... |
ORPHA:35107 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar hypoplasia, Apneic episodes in... |
ORPHA:3078 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Ventriculomegaly, Wide nasal bridge, Bilateral choanal atresia/stenosis,... |
ORPHA:314679 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Underdeveloped nasal alae, Encephalocele, Bifid nose, Depressed nasal bridge, Anteverted nares, A... |
ORPHA:228390 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
ORPHA:453521 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Prominent nose, Cerebellar hypoplasia, Simplified gyral pattern, Primary microcephaly, Partial ag... |
OMIM:616051 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus, Wide nasal bridge, Anteverted nares, Bulbous nose, Agenesis of co... |
OMIM:619320 |
Meckel Syndrome 12 |
|
Wide nasal bridge, Cerebellar hypoplasia, Cerebral hypoplasia, Arrhinencephaly, Microcephaly, Ant... |
OMIM:616258 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Ce... |
OMIM:615181 |
Fumarase Deficiency |
|
Hypoplasia of the brainstem, Open operculum, Depressed nasal bridge, Microcephaly, Cerebral atrop... |
OMIM:606812 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Alkuraya-Kucinskas Syndrome |
|
Kinked brainstem, Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia ... |
OMIM:617822 |
Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum |
ORPHA:2101 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Basal ganglia gliosis, Neuronal loss in basal ganglia, Ventriculomegaly, Irregular respiration, R... |
OMIM:604377 |
Developmental And Epileptic Encephalopathy 73 |
|
Hypoplasia of the corpus callosum, Narrow nasal bridge, Microcephaly, Short nose |
OMIM:618379 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Immunodeficiency 95 |
|
Respiratory failure, Recurrent viral upper respiratory tract infections, Respiratory distress, Re... |
OMIM:619773 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the frontal lobes, Ventriculomegaly, Wide nasal bridge, Lissencephaly, Lobar holopr... |
ORPHA:468631 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Kinked brainstem, Hypoplasia of the brainstem, Cerebellar dysplasia, Ventriculomegaly, Cerebellar... |
OMIM:236670 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Agenesis of corpus callosum |
ORPHA:93267 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Renal tubular epithelial necrosis, Hydrocephalus, Cerebral cal... |
ORPHA:157 |
Temtamy Syndrome |
|
Thick corpus callosum, Convex nasal ridge, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:218340 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Depressed nasal bridge, Sleep apnea, Dandy-Walker mal... |
ORPHA:459061 |
16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration, Ventriculomegaly, Short nose, Holoprosencephaly, Depressed nas... |
ORPHA:261236 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Lateral ventricle dilatation, Hydrocephalus, Respiratory distress, Ante... |
OMIM:612863 |
Agnathia-Otocephaly Complex |
|
Wide nose, Respiratory distress, Holoprosencephaly, Tracheomalacia, Agenesis of corpus callosum |
OMIM:202650 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Depressed nasal bridge, Partial agenesis of the corpus callosum, Microcephaly |
OMIM:618346 |
Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Perisylvian polymicrogyria, Abnormal septum pellucidum morphology, Hypop... |
ORPHA:280195 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Patent ductus arteriosus, Cerebellar hypoplasia, Respiratory distress, Short nose, Depressed nasa... |
OMIM:217980 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Perching Syndrome |
|
Depressed nasal bridge, Respiratory distress |
OMIM:617055 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Hypoplasia of the brainstem, Simplified gyral pattern, Depressed nasal bridge, Microcephaly, Ante... |
OMIM:620001 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:109120 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:245349 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Patent ductus arteriosus, Chiari malformation, Hydrocephalus, Abnormal septum pellucidum morpholo... |
ORPHA:171839 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Ventriculomegaly, Hypoplastic anterior commissure, Choanal atresia, Bul... |
OMIM:616975 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Underdeveloped nasal alae, Cerebral cortical atrophy, Ventriculomegaly, Thin corpus callosum, Dep... |
OMIM:619720 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Focal polymicrogyria, Depressed nasal bridge, Partial agenesis of the corpus callosum, Microcepha... |
OMIM:619103 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Ventriculomegaly, Cavum septum pellucidum, Wide nasal bridge, Respiratory distress, Short nose, B... |
OMIM:619383 |
Trisomy 1Q |
|
Patent ductus arteriosus, Wide nose, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Depr... |
ORPHA:261344 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Wide nasal bridge, Secondary microcephaly, Narrow nasal bridge, Depressed nasal bridge, Hypoplasi... |
OMIM:620073 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Ventriculomegaly, Renal tubular epithelial necrosis, Hydroceph... |
ORPHA:228308 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Short nose |
ORPHA:2015 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Respiratory insufficiency, Patent ductus arteriosus, Ventriculomegaly, Microcephaly, Hypoplasia o... |
OMIM:617260 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Ventriculomegaly, Thin corpus callosum, Periventricular leukomalacia... |
OMIM:619833 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Hypoplasia of the corpus callosum, Respiratory distress, Microcephaly |
OMIM:300934 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent ductus arteriosus, Secondary microcephaly, Partial agenesis of the corpus callosum, Long n... |
OMIM:620113 |
Stromme Syndrome |
|
Wide nasal bridge, Cerebellar hypoplasia, Hydrocephalus, Optic nerve hypoplasia, Short columella,... |
OMIM:243605 |
Edinburgh Malformation Syndrome |
|
Respiratory insufficiency, Abnormality of neuronal migration, Hydrocephalus, Short nose, Antevert... |
ORPHA:1895 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Short nose, Depressed nasal bridge, Microcephaly, Bulbous nose, Agenesis of corpus callosum |
ORPHA:261144 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... |
ORPHA:70589 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Ventriculomegaly, Short nose |
ORPHA:85277 |
Septooptic Dysplasia |
|
Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:182230 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Hydrocephalus, Short nose, Depressed nasa... |
ORPHA:1812 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Respiratory insufficiency, Nasal congestion, Abnormality of neuronal migration, Ventriculomegaly,... |
OMIM:608836 |
Ring Chromosome 22 Syndrome |
|
Bulbous nose, Pleural effusion, Wide nasal base, Microcephaly, Absent septum pellucidum, Agenesis... |
ORPHA:1446 |
Microform Holoprosencephaly |
|
Asthma, Short nose, Midnasal stenosis, Holoprosencephaly, Narrow nasal bridge, Microcephaly, Ante... |
ORPHA:280200 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Anteverted nares, Short nose |
ORPHA:1355 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hyposmia, Anosmia, Agenesis of corpus callosum, Choanal atresia |
OMIM:147950 |
Curry-Jones Syndrome |
|
Hemimegalencephaly, Ventriculomegaly, Occipital meningocele, Megalencephaly, Chiari type I malfor... |
OMIM:601707 |
Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enlarged sylvian cistern, Depressed nasal bridge, Microcephaly, Cerebral atrophy, Hypoplasia of t... |
OMIM:615802 |
Hydrolethalus |
|
Arrhinencephaly, Anencephaly, Hydrocephalus, Abnormality of the sense of smell, Absent septum pel... |
ORPHA:2189 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Desmosterolosis |
|
Patent ductus arteriosus, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocepha... |
OMIM:602398 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:254210 |
Non-Distal Trisomy 10Q |
|
Depressed nasal bridge, Convex nasal ridge, Microcephaly, Short nose |
ORPHA:1695 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Ventriculomegaly, Recurrent pneumonia, Microcephaly, Cerebral at... |
OMIM:616449 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Choanal stenosis, Ventriculomegaly, Chiari malformation, Hydrocephalus, Respiratory distress, Dep... |
OMIM:123790 |
Fanconi Anemia, Complementation Group I |
|
Chiari malformation, Optic nerve hypoplasia, Microcephaly, Absent septum pellucidum, Agenesis of ... |
OMIM:609053 |
Marden-Walker Syndrome |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corpus callosum, Inferior cerebel... |
OMIM:248700 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Cerebral cortical atrophy, Ventriculomegaly, Respiratory distres... |
OMIM:619272 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Hypoplasia of the brainstem, Wide nasal bridge, Dandy-Walker malformatio... |
OMIM:605039 |
Ritscher-Schinzel Syndrome 4 |
|
Wide nasal bridge, Cerebellar hypoplasia, Mild fetal ventriculomegaly, Agenesis of corpus callosu... |
OMIM:619435 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Wide nasal bridge, Prominent nasal tip, Depressed nasal bridge, Microcep... |
OMIM:619312 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Global brain atrophy, Hypoplasia of the brainstem, Hyperintensity of cerebral white matter on MRI... |
ORPHA:481152 |
Braddock-Carey Syndrome 1 |
|
Anteverted nares, Wide nasal bridge, Microcephaly, Agenesis of corpus callosum |
OMIM:619980 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Ventriculomegaly, Cerebellar hypoplasia, Hypodysplasia of the corpus callosum, Cerebra... |
OMIM:257300 |
Peho Syndrome |
|
Short nose, Progressive microcephaly, Cerebellar atrophy, Pachygyria, Hypoplasia of the corpus ca... |
OMIM:260565 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:605809 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Hypoplasia of the corpus callosum, Cerebellar atrophy, Microcephaly, Agenesis of corpus callosum |
OMIM:616239 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Cerebellar atrophy, Microcephaly, Anteverted nares, Short nose |
OMIM:618506 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebellar hypoplasia, Porencephalic cyst, Hydrocephalus, Dandy-Walker malformation, Cortical dys... |
OMIM:613001 |
Holoprosencephaly 7 |
|
Hypoplasia of the brainstem, Wide nasal bridge, Absent nasal septal cartilage, Hydrocephalus, Sem... |
OMIM:610828 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Ventriculomegaly, Chiari malformation, Hydrocephalus, Dandy-Walker malf... |
ORPHA:96170 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress |
OMIM:254120 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Apert Syndrome |
|
Respiratory insufficiency, Convex nasal ridge, Ventriculomegaly, Chiari malformation, Hydrocephal... |
ORPHA:87 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Polymicrogyria |
OMIM:616974 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Agenesis of corpus callosum |
OMIM:250620 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:77298 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Wide nasal bridge, Cerebellar hypoplasia, ... |
OMIM:300749 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventriculomegaly, Cerebellar hypoplasia, Short nose, Depressed nasal br... |
ORPHA:284169 |
Curry-Jones Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:1553 |
Vitamin K Antagonist Embryofetopathy |
|
Respiratory insufficiency, Myelomeningocele, Hydrocephalus, Short nose, Depressed nasal bridge, A... |
ORPHA:1914 |
Coffin-Siris Syndrome 11 |
|
Bulbous nose, Depressed nasal bridge, Agenesis of corpus callosum |
OMIM:618779 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Narrow nasal ridge, Hydrocephalus, Microcephaly, Bulbous nose, Agenesis of corpus callosum |
OMIM:612940 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Cerebral cortical atrophy, Subcortical cerebral atrophy, Ventriculomegaly, Short nose, Microcepha... |
ORPHA:96147 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose |
OMIM:300577 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Small cerebral cortex, Wide nasal bridge, Central sleep apnea, Periventricular leukomalacia, Spin... |
OMIM:617360 |
Chromosome 5P13 Duplication Syndrome |
|
Low hanging columella, Bulbous nose, Wide nasal bridge, Agenesis of corpus callosum |
OMIM:613174 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Convex nasal ridge, Encephalocele, Microcephaly, Short nose |
OMIM:200130 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... |
ORPHA:60032 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure |
OMIM:614399 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Abnormal pattern of respiration, Microcephaly, Short nose |
ORPHA:833 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short nose, Microcephaly, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Primary microcephaly |
OMIM:245570 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
Joubert Syndrome With Oculorenal Defect |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Abnormality of neuronal migration, Mola... |
ORPHA:2318 |
Endocrine-Cerebroosteodysplasia |
|
Aplasia/Hypoplasia of the cerebellum, Focal polymicrogyria, Ventriculomegaly, Wide nasal bridge, ... |
OMIM:612651 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose |
ORPHA:1450 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Patent ductus arteriosus, Respiratory distress, Secondary microcephaly, Depressed nasal bridge, P... |
OMIM:608799 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Short nose, Narrow nasal bridge, Cerebellar atrophy, Microcephaly, Hypoplas... |
ORPHA:544503 |
Nizon-Isidor Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypoplasia of the corpus callosum, Bulbous nose, Promin... |
OMIM:618872 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Ventriculomegaly, Short nose, Secondary microcephaly, Progressive microcephaly, Cerebe... |
OMIM:615851 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Prominent nasal bridge, Agenesis of corpus callosum, Choanal atresia |
ORPHA:52055 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Short nose, Depressed nasal bridge, Microcephaly, Chiari type I malformation, Occi... |
OMIM:241800 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Microcephaly |
ORPHA:26792 |
Halperin-Birk Syndrome |
|
Ventriculomegaly, Aspiration, Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:618651 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Primary microcephaly, Simplified gyral pattern, Short nose, Optic nerve hypoplasia, Depressed nas... |
OMIM:618828 |
Intellectual Disability-Strabismus Syndrome |
|
Patent ductus arteriosus, Prominent nose, Narrow nasal ridge, Short nose, Depressed nasal bridge,... |
ORPHA:363528 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Microcephaly, Agenesis of... |
OMIM:264480 |
Pettigrew Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Cerebellar hypoplasia, Wide nasal bridge, Polymicrogyria, Depressed... |
ORPHA:1692 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Patent ductus arteriosus, Prominent nose, Ventriculomegaly, Abnormal cortical gyration, Cerebella... |
OMIM:300968 |
Donnai-Barrow Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Short nose, Depressed nasal bridge, Partial agenesis o... |
OMIM:222448 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Microcephaly, Hypoplasia of the corpus callosum, Short nose |
OMIM:300887 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Folinic Acid-Responsive Seizures |
|
Apnea, Cerebellar atrophy, Frontotemporal cerebral atrophy, Respiratory distress |
ORPHA:79097 |
Leukodystrophy, Hypomyelinating, 10 |
|
Cerebral cortical atrophy, Reduced cerebral white matter volume, Hypoplasia of the brainstem, Sho... |
OMIM:616420 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Short nose, Cortical dysplasia, Ant... |
OMIM:617201 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Thin corpus callosum, Partial agenesis of the corpus callosum |
OMIM:619653 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Respiratory distress, Agenesis of corpus callosum, Aspiration |
OMIM:618733 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Depressed nasal bridge, Short nose |
ORPHA:261120 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Agenesis of corpus callosum, Hydrocephalus, Depressed nasal bridge, Dan... |
OMIM:612582 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Bulbous nose, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Low han... |
OMIM:618109 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Aplasia of the nasal bone, Colpocephaly, Chiari malformation, Short nose... |
OMIM:618820 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Recurrent aspiration pneumonia, Recurrent pneumonia, Prominent nasal br... |
OMIM:300472 |
Pierpont Syndrome |
|
Wide nose, Chiari malformation, Short nose, Broad nasal tip, Microcephaly |
OMIM:602342 |
Peho Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Porencephalic cyst, Hydrocephalus, Short nose, Micro... |
ORPHA:2836 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Cerebral cortical atrophy, Reduced cerebral white matter volume, Ventr... |
OMIM:615803 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Depressed nasal bridge, Microcephaly, Agenesis of corpus callosum, Long nose |
OMIM:612337 |
Birk-Landau-Perez Syndrome |
|
Neonatal respiratory distress, Agenesis of corpus callosum, Microcephaly, Pachygyria |
OMIM:617595 |
Burn-Mckeown Syndrome |
|
Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge, Short nose |
ORPHA:1200 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Depressed nasal bridge, Periventricular heterotopia, Agenesis of corpus callosum |
OMIM:618929 |
Baker-Gordon Syndrome |
|
Sleep apnea, Prominent nasal tip, Short nose |
OMIM:618218 |
Microlissencephaly-Micromelia Syndrome |
|
Cerebellar hypoplasia, Respiratory distress, Lissencephaly, Short nose, Secondary microcephaly |
ORPHA:50810 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Bulbous nose, Respiratory distress, Wide nasal bridge, Microcephaly |
ORPHA:261304 |
Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Leigh Syndrome With Cardiomyopathy |
|
Global brain atrophy, Basal ganglia gliosis, Neuronal loss in basal ganglia, Ventriculomegaly, Ab... |
ORPHA:70474 |
Tubulinopathy-Associated Dysgyria |
|
Ventriculomegaly, Abnormal brainstem morphology, Agyria, Cerebellar vermis hypoplasia, Dysgyria, ... |
ORPHA:467166 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Wide nasal bridge, Cerebellar hypoplasia, Hydrocephalus, Respira... |
ORPHA:3309 |
Slc35A2-Cdg |
|
Lateral ventricle dilatation, Abnormal cerebral white matter morphology, Abnormal midbrain morpho... |
ORPHA:356961 |
Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Cough, Respiratory distress |
ORPHA:77260 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Neonatal death, Respiratory distress, Stillbirth |
OMIM:619751 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Global brain atrophy, Cerebral cortical atrophy, Short nose, Progressive microcephaly, Depressed ... |
OMIM:617802 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Global brain atrophy, Ventriculomegaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Microcepha... |
OMIM:301056 |
Marshall-Smith Syndrome |
|
Ventriculomegaly, Recurrent aspiration pneumonia, Optic nerve hypoplasia, Airway obstruction, Cho... |
OMIM:602535 |
Joubert Syndrome 31 |
|
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Cerebral cortical atrophy, Short nose, Partial agenesis of the corpus callosum, Microcephaly, Ant... |
OMIM:234050 |
Septo-Optic Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the cerebellum, Septo-optic dysplasia, Optic nerve hypoplasia, Anosmia, Abs... |
ORPHA:3157 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventr... |
OMIM:617296 |
Joubert Syndrome 7 |
|
Neonatal breathing dysregulation, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on... |
OMIM:611560 |
Monosomy 13Q34 |
|
Prominent nose, Epistaxis, Broad nasal tip, Microcephaly, Prominent nasal bridge, Agenesis of cor... |
ORPHA:96168 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Dilated fourth ventricle, Dilated third ventricle, Periventricular hete... |
ORPHA:434179 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Short nose |
OMIM:613670 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... |
ORPHA:254875 |
Laryngotracheal Angioma |
|
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
Aicardi Syndrome |
|
Gray matter heterotopia, Dilated third ventricle, Chiari malformation, Lateral ventricle dilatati... |
OMIM:304050 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Chiari malformation, Hydrocephalus, Respiratory distress, Short nose, Depres... |
ORPHA:93259 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Progressive microcephaly, Respiratory distress |
OMIM:614741 |
Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough |
ORPHA:50251 |
Genitopatellar Syndrome |
|
Wide nose, Prominent nose, Apnea, Microcephaly, Prominent nasal bridge, Agenesis of corpus callosum |
ORPHA:85201 |
Isolated Exencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Depressed nasal bridge, Agenesis of corp... |
ORPHA:563612 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum |
ORPHA:139471 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Porencephalic cyst, Arrhinencephaly, Periventricular nodular heterotopia... |
OMIM:277170 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Patent ductus arteriosus, Encephalocele, Wide nasal bridge, Anencephaly, Agenesis of corpus callo... |
OMIM:619148 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hydrocephalus, Agenesis of corpus callosum, Septo-optic dy... |
ORPHA:3301 |
Maxillonasal Dysplasia, Binder Type |
|
Short columella, Depressed nasal bridge, Short nose |
OMIM:155050 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Optic nerve hypoplasia, Anteverted ... |
ORPHA:457284 |
Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect, Dyspnea,... |
ORPHA:1302 |
Leigh Syndrome |
|
Encephalomalacia, Abnormal dentate nucleus morphology, Neuronal loss in basal ganglia, Abnormal b... |
ORPHA:506 |
Coffin-Siris Syndrome |
|
Patent ductus arteriosus, Aspiration pneumonia, Simplified gyral pattern, Dandy-Walker malformati... |
ORPHA:1465 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Ventriculomegaly, Recurrent aspiration pneumonia, Lateral v... |
ORPHA:397715 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Respiratory insufficiency, Cerebellar hypoplasia, Cardiorespiratory arrest, Pachygyria, Agenesis ... |
ORPHA:93317 |
Kleefstra Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Short nose, Dyspnea, Microcephaly, Anteverted nares,... |
ORPHA:261494 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Opitz Gbbb Syndrome |
|
Abnormal nasopharynx morphology, Wide nasal bridge, Aspiration, Microcephaly, Anteverted nares, A... |
OMIM:300000 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Dilated third ventricle, Lateral ventricle dilatation, Prominent... |
ORPHA:464738 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Hydrocephalus, Respiratory distress, Depressed nasal bridge, Meg... |
OMIM:616482 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Abnormal dentate nucleus morphology, Aqueductal stenosis, Elongated superior cerebellar peduncle,... |
OMIM:619512 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Abnormal dentate nucleus morphology, Ventriculomegaly, Sept... |
ORPHA:59315 |
Clark-Baraitser Syndrome |
|
Short nose, Depressed nasal bridge, Microcephaly, Anteverted nares, Low hanging columella |
OMIM:617752 |
Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Aplasia of the nose, Septo-optic dysplasia, Semilobar holoprosencephaly... |
OMIM:301043 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Narrow nose, Long nose, Prominent nasal bridge, Agenesis of corpus callosum |
OMIM:309520 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Wide nasal bridge, Thin corpus callosum, Short nose, Depressed nasal br... |
OMIM:613457 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Cerebellar hypoplasia, Short nose, Apnea, Progressive ventriculomegaly, Depressed nasal bridge, C... |
OMIM:602613 |
Developmental And Epileptic Encephalopathy 75 |
|
Cerebral cortical atrophy, Wide nasal bridge, Short nose, Secondary microcephaly, Anteverted nare... |
OMIM:618437 |
Odontochondrodysplasia |
|
Patent ductus arteriosus, Depressed nasal bridge, Respiratory distress, Short nose |
ORPHA:166272 |
Cebalid Syndrome |
|
Depressed nasal ridge, Short nose, Depressed nasal bridge, Anteverted nares, Polymicrogyria |
OMIM:618774 |
Thakker-Donnai Syndrome |
|
Anteverted nares, Bulbous nose, Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
Plaa-Associated Neurodevelopmental Disorder |
|
Respiratory insufficiency, Leukoencephalopathy, Cerebellar cortical atrophy, Ventriculomegaly, Ab... |
ORPHA:521426 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Abnormal periventricular white matter morphology, Cerebellar hypoplasia, Respiratory distress, Sh... |
ORPHA:329178 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Cough, Respiratory failure, T... |
OMIM:263000 |
Jaberi-Elahi Syndrome |
|
Cerebellar vermis atrophy, Short nose, Depressed nasal bridge, Microcephaly, Globus pallidus hypo... |
OMIM:617988 |
Pyruvate Carboxylase Deficiency |
|
Periventricular cysts, Basal ganglia gliosis, Ventriculomegaly, Hyperintensity of cerebral white ... |
ORPHA:3008 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Stt3B-Cdg |
|
Cerebellar atrophy, Respiratory distress, Microcephaly |
ORPHA:370924 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar hypoplasia, Hydrocephalus, Short nose, Depressed nasal bridge, Cerebellar atrophy, Cer... |
OMIM:618590 |
Sotos Syndrome |
|
Patent ductus arteriosus, Enlarged naris, Ventriculomegaly, Depressed nasal bridge, Partial agene... |
OMIM:117550 |
Tetrasomy 18P |
|
Abnormality of neuronal migration, Microcephaly, Short nose |
ORPHA:3307 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Respiratory distress, Microcephaly |
OMIM:615597 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Hypoplasia of the corpus callosum, Depressed nasal bridge, Respiratory distress, Wide nasal bridge |
OMIM:617102 |
Joubert Syndrome 2 |
|
Neonatal breathing dysregulation, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on... |
OMIM:608091 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Primary microcephaly, Diffuse cerebral atrophy, Short nose, Secondary microcephaly, Hypoplasia of... |
ORPHA:289266 |
Coffin-Siris Syndrome 4 |
|
Patent ductus arteriosus, Wide nose, Wide nasal bridge, Agenesis of corpus callosum, Narrow nasal... |
OMIM:614609 |
Micro Syndrome |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Abnormal cerebellum morphol... |
ORPHA:2510 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:300004 |
Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly |
OMIM:610333 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... |
ORPHA:264675 |
Opitz Gbbb Syndrome |
|
Patent ductus arteriosus, Ventriculomegaly, Recurrent aspiration pneumonia, Wide nasal bridge, Da... |
ORPHA:2745 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal external nose morphology, Semilobar holoprosencephaly, Hypoxemia, Holoprosencephaly, Age... |
ORPHA:556955 |
Auriculocondylar Syndrome 2 |
|
Apnea, Snoring, Respiratory distress |
OMIM:614669 |
8P Inverted Duplication/Deletion Syndrome |
|
Wide nasal bridge, Cerebellar hypoplasia, Agenesis of corpus callosum, Anteverted nares, Dandy-Wa... |
ORPHA:96092 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal ridge, Short nose, Dimple on nasal tip, Depressed nasal bridge, Bi... |
ORPHA:1791 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Short nose |
OMIM:601224 |
1Q21.1 Microdeletion Syndrome |
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Patent ductus arteriosus, Wide nasal bridge, Hydrocephalus, Microcephaly, Bulbous nose, Agenesis ... |
ORPHA:250989 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Pulmonary arterial hypertension, Patent ductus arteriosus, Cerebral cortical atrophy, Ventriculom... |
OMIM:618454 |
Chromosome 6Q11-Q14 Deletion Syndrome |
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Primary microcephaly, Short nose, Broad nasal tip, Microcephaly, Prominent nasal bridge |
OMIM:613544 |
Mitochondrial Myopathy And Sideroblastic Anemia |
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Microcephaly, Short nose |
ORPHA:2598 |
Joubert Syndrome 9 |
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Encephalocele, Molar tooth sign on MRI, Ventriculomegaly, Episodic tachypnea, Apnea |
OMIM:612285 |
Crouzon Syndrome With Acanthosis Nigricans |
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Hydrocephalus |
OMIM:612247 |
Bainbridge-Ropers Syndrome |
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Underdeveloped nasal alae, Choanal stenosis, Lateral ventricle dilatation, Wide nasal bridge, Inf... |
OMIM:615485 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
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Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... |
ORPHA:411703 |
Bohring-Opitz Syndrome |
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Ventriculomegaly, Wide nasal bridge, Dandy-Walker malformation, Apnea, Depressed nasal bridge, Mi... |
ORPHA:97297 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Wide nose, Hypoplasia of the brainstem, Cerebellar hypoplasia, Primary microcephaly, Short nose, ... |
ORPHA:391408 |
Fryns Syndrome |
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Cerebral cortical atrophy, Ventriculomegaly, Wide nasal bridge, Agenesis of corpus callosum, Ante... |
ORPHA:2059 |
Orofaciodigital Syndrome I |
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Underdeveloped nasal alae, Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration,... |
OMIM:311200 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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