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Branchio-oculo-facial syndrome
Relevant markers:
AnophtalmiaCataractParents markers:MicrocephalyCleft lipCleft in hard palateEarsMicrophthalmiaPolydactyly of hand/sRenal agenesisIntrauterine growth retardation (IUGR/SGA/FGR)
Involved genes:
(gene — definition — chromosome)TFAP2A — 6p24.3 Inheritance mode: AD Other online databases: OrphaNet, OMIM, Geneva Foundation, Jablonski's Database Login for more details.