| Metadata | |
|---|---|
| ID | DOID:0060934 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060934 Copy |
| Name | neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/28626029/, https://pubmed.ncbi.nlm.nih.gov/31687267/, https://pubmed.ncbi.nlm.nih.gov/35150401/, https://pubmed.ncbi.nlm.nih.gov/37713627/ |
| Xrefs | |
| Synonyms |
NEDMEBA [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |