Login to search by marker and hierarchy!
-
Oral-facial-digital syndrome, type I
Relevant markers:
Porencephalic cystHypoplasia/partial agenesis of vermisMedian cleft lipMedian cleft in hard palateMicrognathia/retrognathiaBrachydactyly of fingersPolycystic (enlarged echogenic) kidney/sParents markers:Agenesis of corpus callosum (ACC)VentriculomegalyFacePolydactyly of hand/sSyndactyly of fingers
Incidence: - — 1/250000 Involved genes:
(gene — definition — chromosome)CXORF5 — Xp22.3 Inheritance mode: X-linked dominant Other online databases: OrphaNet, OMIM, Geneva Foundation, Jablonski's Database Login for more details.