Bowen-Conradi syndrome
Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
BWCNS
exact
Bowen Hutterite Syndrome
exact
Bowen Hutterite syndrome (formerly)
exact
Bowen Hutterite syndrome, formerly
exact
Bowen syndrome, Hutterite type
exact
Bowen-Conradi Hutterite syndrome
exact
Bowen-Conradi syndrome
exact
SPAC18G6.07c