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split hand-foot malformation 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.
Uniprot Description A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
Mondo Term and Equivalent IDs
MONDO:0011535:  split hand-foot malformation 4
MESH:C565344: