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chromosome 17P13.3, telomeric, duplication syndrome

Disease Summary
Associated Targets (1)


Uniprot Description A disease characterized by the association of split-hand/foot malformation with long bone deficiency involving the tibia and fibula. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod. Phenotypic expression is extremely variable between and within families, and even between limbs of a single patient, ranging from syndactyly and oligodactyly to the most severe monodactyly with only a single phalanx. Limb features include median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals.
Mondo Term and Equivalent IDs
MONDO:0012944:  chromosome 17P13.3, telomeric, duplication syndrome