X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

Orpha code: 85280OMIM code: 300471

Definition

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked <i>cubitus valgus</i>, 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.

Disease data
Classification

Malformation syndrome

ORPHA code
85280
OMIM code
300471
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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