Metadata | |
---|---|
ID | DOID:0111674 |
Name | intellectual developmental disorder with short stature and behavioral abnormalities |
Definition | A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. https://www.ncbi.nlm.nih.gov/pubmed/31607425 |
Xrefs | |
Synonyms |
IDDSSBA [EXACT] |
Parent Relationships |
is_a syndrome |