microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0001149
microcephaly
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0019118
inherited retinal dystrophy
is_a
MONDO:0019313
lymphatic malformation
is_a
MONDO:0043218
neurovascular disorder
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
KIF11 disease
related
KIF11-associated disorder
exact
MCLMR
exact
MLCRD
exact
MLCRD syndrome
exact
lymphedema, microcephaly and chorioretinopathy syndrome
exact
microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant
related
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
exact
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
exact
microcephaly, lymphedema, chorioretinal dysplasia syndrome
exact
SPAC25G10.07c