| Metadata | |
|---|---|
| ID | DOID:0090144 |
| Name | Donnai-Barrow syndrome |
| Definition | A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome, https://www.omim.org/entry/222448 |
| Xrefs |
SNOMEDCT_US_2023_03_01:702418009 |
| Subsets |
DO_rare_slim |
| Synonyms |
DBS/FOAR syndrome [EXACT] 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] FOAR syndrome [EXACT] Holmes-Schepens syndrome [EXACT] syndrome of ocular and facial anomalies, telecanthus and deafness [EXACT] |
| Parent Relationships |
is_a syndrome |