Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
12p12.1
Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 609942.1 | Saudi Arabia | Male | No | Yes | Short stature; Supravalvar pulmonary ste... Short stature; Supravalvar pulmonary stenosis; Intellectual disability; Motor delay; Abnormal facial shape; Periventricular leukomalacia; Hypotonia; Redundant skin  | NM_004985.5:c.458A>T | Heterozygous | Autosomal, Dominant | Monies et al. 2017 |