Term Name: | Simpson-Golabi-Behmel syndrome type 2 |
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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 ) |