Term Name: Simpson-Golabi-Behmel syndrome type 2
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.
Ontology: Human Disease [DOID:0080342]   ( DOID:0080342 )

Relationships
is a type of: syndrome X-linked recessive disease