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Donnai-Barrow syndrome
rareDonnai-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.
- Identifiers
- MONDO:0009104 OMIM:222448Orphanet:2143
- Causal genes
- LRP2
- Part of
- Autosomal recessive diseaseMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- Also known as
- DBS/FOAR syndrome · diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria · diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria · diaphragmatic hernia-exomphalos-hypertelorism syndrome · diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
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