Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Disease ID: disease_node_16448
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| Dbxref | MIM:617862 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Synonyms | NEDMEBA |
| Doid Label | neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy |
| Doid Description | An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. |
| Disease Node Id | disease_node_16448 |
| Doid Id | DOID_0060934 |
| Label | Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)