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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

GARD:1899

MESH:C536390

OMIM:222448

ORDO:2143

SNOMEDCT_US_2019_09_01:702418009

UMLS_CUI:C1857277

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

is_a autosomal recessive disease

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