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Browse result for Saul-Wilson syndrome

※ introduction

    A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1.

Reference
DiseaseOntology: Saul-Wilson syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD12987Q9H9E325839
COG4
Conserved oligomeric Golgi complex subunit 4
Homo sapiens