microcephaly-deafness-intellectual disability syndrome
Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
Kawashima Tsuji syndrome
related
Kawashima-Tsuji syndrome
exact
microcephaly deafness syndrome
related
syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies
related
syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies
related