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hydrolethalus syndrome 2

Disease Summary
Associated Targets (1)


Mondo Description Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.
Uniprot Description An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding.
Mondo Term and Equivalent IDs
MONDO:0013585:  hydrolethalus syndrome 2