| Metadata | |
|---|---|
| ID | DOID:0112021 |
| Name | non-syndromic X-linked intellectual disability ARX-related |
| Definition | A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. https://pubmed.ncbi.nlm.nih.gov/10398246/, https://pubmed.ncbi.nlm.nih.gov/17480217/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARX-related intellectual disability [EXACT] MRXARX [EXACT] X-linked mental retardation 29 and others [EXACT] X-linked mental retardation 29 [EXACT] X-linked mental retardation 32 [EXACT] X-linked mental retardation 33 [EXACT] X-linked mental retardation 38 [EXACT] X-linked mental retardation 43 [EXACT] X-linked mental retardation 52 [EXACT] X-linked mental retardation 54 [EXACT] X-linked mental retardation 76 [EXACT] X-linked mental retardation 87 [EXACT] X-linked mental retardation with or without seizures ARX-related [EXACT] |
| Parent Relationships |