X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
An 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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0020119
X-linked syndromic intellectual disability
is_a
Cubitus valgus with mental retardation and unusual facies, X-linked recessive
exact
cubitus valgus with mental retardation and unusual facies
related