CHARGE Syndrome D058747

Related MeSH Hierarchy (9)

Diseases [C] » Eye Diseases [C11] » Vision Disorders » Blindness » Deaf-Blind Disorders » CHARGE Syndrome

Diseases [C] » Eye Diseases [C11] » Eye Diseases, Hereditary » Coloboma » CHARGE Syndrome

Description

Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.   MeSH

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