microcephalic osteodysplastic dysplasia, Saul-Wilson type
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:0000426
autosomal dominant disease
is_a
MONDO:0005497
bone development disease
is_a
MONDO:0800063
primordial dwarfism and slender bone disorder
is_a
SWILS
exact
Saul-Wilson syndrome
exact
microcephalic osteodysplastic dysplasia
exact
microcephalic osteodysplastic dysplasia, Saul-Wilson type
exact
SPCC338.13