Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
2p22.1
Noonan Syndrome is a rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. NS4 is caused by mutations in the SOS1 gene . [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610733.1 | Lebanon | Intellectual disability; Global develop... Intellectual disability; Global developmental delay; Cardiac abnormality  | NM_005633.3:c.1352C>A | Heterozygous | Autosomal, Dominant | Nair et al. 2018 | ||||
| 610733.2 | Lebanon | Male | | NM_005633.3:c.1352C>A | Heterozygous | Autosomal, Dominant | Kruszka et al. 2017 |