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Velocardiofacial syndrome
Relevant markers:
Median cleft lipMicrognathia/retrognathiaUmbilical herniaHypospadias/tulip signUndescended testesParents markers:MicrocephalyHoloprosencephalyCleft in hard palateShort limbsHeart
Incidence: 1/10000 — - Involved genes:
(gene — definition — chromosome)TBX1 — 22q11.21-q11.23 Inheritance mode: AD Other online databases: OMIM, Jablonski's Database Login for more details.