Metadata | |
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ID | DOID:0060818 |
Name | syndromic X-linked intellectual disability Abidi type |
Definition | A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. https://www.ncbi.nlm.nih.gov/pubmed/10398233 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
mental retardation, X-linked syndromic, Abidi type [EXACT] MRXSAB [EXACT] syndromic X-linked mental retardation Abidi type [EXACT] |
Parent Relationships |