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Metadata
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

MESH:C535556

OMIM:300262

ORDO:85273

UMLS_CUI:C1846056

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

is_a syndromic X-linked intellectual disability

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