hydrolethalus syndrome 1

Term ID

DOID:0111355

Synonyms

• HLS1

Definition

A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. https://www.ncbi.nlm.nih.gov/pubmed/15843405

References

• MESH:C565504
• OMIM:236680

Ontology

Human Disease   ( DOID:0111355 )