Metadata | |
---|---|
ID | DOID:0112040 |
Name | non-syndromic X-linked intellectual disability 100 |
Definition | A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. https://pubmed.ncbi.nlm.nih.gov/24812067/ |
Xrefs | |
Synonyms |
MRX100 [EXACT] X-linked mental retardation 100 [EXACT] |
Parent Relationships |