C202069Level 5
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
**Semantic type:** Disease or Syndrome
**Definition:** An X-linked recessive condition caused by mutation(s) in the UBE2A gene, encoding ubiquitin-conjugating enzyme E2 A. It is characterized by facial dysmorphisms and intellectual impairment.
**Synonyms:** - MRXSN
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