Branchio-oculo-facial syndrome

Orpha code: 1297OMIM code: 113620

Definicja

A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
BOFS
BOFS
Kod ORPHA
1297
Kod OMIM
113620
Kod ICD10
Q18.8
Kod ICD11
LD2F.1Y

No additional description.

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