ZFIN Human Disease: Donnai-Barrow syndrome

OBO ID: DOID:0090144

Term Name:	Donnai-Barrow syndrome		Search Ontology:
Synonyms:	DBS/FOAR syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome FOAR syndrome Holmes-Schepens syndrome syndrome of ocular and facial anomalies, telecanthus and deafness
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. (2)
References:	GARD:1899 MESH:C536390 OMIM:222448 ORDO:2143 SNOMEDCT_US_2023_03_01:702418009 UMLS_CUI:C1857277
Ontology:	Human Disease ( DOID:0090144 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Donnai-Barrow syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LRP2	lrp2b lrp2a	Donnai-Barrow syndrome	222448

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)