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Human Disease

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
Ontology
Human Disease   ( DOID:0080342 )
Relationships
is a type of
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Genes Involved
Zebrafish Models