| Metadata | |
|---|---|
| ID | DOID:0112025 |
| Name | female-restricted syndromic X-linked intellectual disability 99 |
| Definition | A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. https://pubmed.ncbi.nlm.nih.gov/26833328/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
female-restricted syndromic X-linked mental retardation 99 [EXACT] MRXS99F [EXACT] X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability [EXACT] |
| Parent Relationships |