| Metadata | |
|---|---|
| ID | DOID:0070698 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070698 Copy |
| Name | X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities |
| Definition | A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, hypotonia with delayed walking or inability to walk, severe-to-profound intellectual disability with poor or absent speech, and early-onset epilepsy that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11. Females may be less severely affected than males. https://pmc.ncbi.nlm.nih.gov/articles/PMC6752297/, https://pubmed.ncbi.nlm.nih.gov/30666632/ |
| Xrefs | |
| SKOS |
exactMatch MIM:301164 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDXSB [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked dominant inheritance |