| Metadata | |
|---|---|
| ID | DOID:0112044 |
| Name | non-syndromic X-linked intellectual disability 98 |
| Definition | A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. https://pubmed.ncbi.nlm.nih.gov/27358180/, https://pubmed.ncbi.nlm.nih.gov/23615299/ |
| Xrefs | |
| Synonyms |
MRX98 [EXACT] X-linked mental retardation 98 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked dominant inheritance |