Term Name: | hydrolethalus syndrome 1 |
---|---|
Synonyms: | HLS1 |
Definition: | A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. |
Ontology: | Human Disease [DOID:0111355] ( DOID:0111355 ) |