split-hand/foot malformation with long bone deficiency 1

Findings

No curated finding names split-hand/foot malformation with long bone deficiency 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• tibial aplasia-ectrodactyly syndrome

Resolves to: split-hand/foot malformation with long bone deficiency 1

Also called

SHFLD1