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X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
rareAn X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.
- Identifiers
- MONDO:0010332 OMIM:300471Orphanet:85280
- Part of
- X-linked syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- cubitus valgus with mental retardation and unusual facies · Cubitus valgus with mental retardation and unusual facies, X-linked recessive
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