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microcephalic osteodysplastic dysplasia, Saul-Wilson type

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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 COG4 on chromosome 16q22.1.
Mondo Term and Equivalent IDs
MONDO:0019407:  microcephalic osteodysplastic dysplasia, Saul-Wilson type
DOID:0111673: 
Orphanet:85172: