| Metadata | |
|---|---|
| ID | DOID:0112016 |
| Name | non-syndromic X-linked intellectual disability 2 |
| Definition | A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. https://pubmed.ncbi.nlm.nih.gov/6839531/, https://pubmed.ncbi.nlm.nih.gov/2602357/ |
| Xrefs | |
| Synonyms |
MRX2 [EXACT] X-linked mental retardation 2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked dominant inheritance |