Donnai-Barrow Syndrome (DBS)

Alias:

Faciooculoacousticorenal Syndrome

Dbs/foar Syndrome

Foar Syndrome

Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

Facio-Oculo-Acoustico-Renal Syndrome

Syndrome of Ocular and Facial Anomalies, Telecanthus and Deafness

Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome

Holmes-Schepens Syndrome

Dbs

Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, and Proteinuria

Syndrome of Ocular and Facial Anomalies, Telecanthus and Hearing Loss

Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome

Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis

Donnai Barrow Syndrome

Foar

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Donnai-Barrow Syndrome, also known as faciooculoacousticorenal syndrome, is related to lowe oculocerebrorenal syndrome and dent disease 1, and has symptoms including unspecified visual loss An important gene associated with Donnai-Barrow Syndrome is LRP2 (LDL Receptor Related Protein 2), and among its related pathways/superpathways are Cobalamin (Cbl, vitamin B12) transport and metabolism and Reelin signaling pathway. Affiliated tissues include heart and brain, and related phenotypes are intellectual disability and global developmental delay

Related ID：

MALACARDS：DNN002

OMIM：222448

MESH：C536390