Noonan syndrome-like disorder with loose anagen hair

Nuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaCoarctation of aorta

Parents markers:

Ventricular septal defect (VSD)

Incidence:

1/1000 — 1/2500

Involved genes:
(gene — definition — chromosome)

SHOC2 — SUPPRESSOR OF CLEAR, C. ELEGANS, HOMOLOG OF — 10q25.2

Inheritance mode:

Other online databases:

References:

2014

Am J Med Genet A

Case report