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Oral-facial-digital syndrome, type II
Relevant markers:
Bifid thumbBroad nasal bridgeMicrognathia/retrognathiaPorencephalic cystPreaxial polydactyly of footPreaxial polydactyly of hand/sTalipesTongue mass / tumorPolyhydramniosParents markers:Agenesis of corpus callosum (ACC)Arachnoid cystCerebellumCleft in hard palateCleft lipMicrocephalyNoseSyndactyly of fingersVentriculomegaly
Inheritance mode: AR Other online databases: OrphaNet, OMIM, Jablonski's Database Login for more details.