Term Name: | hydrolethalus syndrome 2 |
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Synonyms: | HLS2 |
Definition: | A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. |
Ontology: | Human Disease [DOID:0111356] ( DOID:0111356 ) |