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Results: 3

1.

NOONAN SYNDROME 8

MedGen UID:
815563
Concept ID:
C3809233
Disease or Syndrome
2.

Short stature-heart defect-craniofacial anomalies syndrome

MedGen UID:
799547
Concept ID:
CN197561
Disease or Syndrome
3.

Noonan syndrome 8

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). [from OMIM]

MedGen UID:
506991
Concept ID:
CN178406
Disease or Syndrome

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