Simpson-Golabi-Behmel syndrome type 2

Term ID

DOID:0080342

Synonyms

Definition

A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. https://www.ncbi.nlm.nih.gov/pubmed/16783569

References

• OMIM:300209

Ontology

Human Disease   ( DOID:0080342 )