Donnai-Barrow syndrome
Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
DBS/FOAR syndrome
exact
Donnai-Barrow syndrome
exact
FOAR syndrome
exact
Holmes-Schepens syndrome
exact
diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria
related
diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
exact
diaphragmatic hernia-exomphalos-hypertelorism syndrome
exact
diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
exact
facio-oculo-acoustico-renal syndrome
exact
faciooculoacousticorenal syndrome
exact
syndrome of ocular and facial anomalies, telecanthus and deafness
exact