Cohen syndrome
Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015134
constitutional neutropenia
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0100598
autosomal recessive syndromic intellectual disability
is_a
COH1
related
Chs1
related
Cohen syndrome
exact
cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness
exact