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ID DOID:0080342
Name Simpson-Golabi-Behmel syndrome type 2
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, https://www.omim.org/entry/300209
Xrefs

OMIM:300209

Subsets

DO_rare_slim

Parent Relationships

is_a syndrome

is_a X-linked recessive disease

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