NOONAN SYNDROME 7

General Information (adopted from Orphanet):

Synonyms, Signs: NS7
Number of Symptoms 13
OrphanetNr:
OMIM Id: 613706
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism 644 / 7739
2
 (HPO:0000268) Dolichocephaly 144 / 7739
3
 (HPO:0011220) Prominent forehead 137 / 7739
4
 (HPO:0000391) Thickened helices 8 / 7739
5
 (HPO:0000369) Low-set ears 372 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
8
 (HPO:0004322) Short stature 1232 / 7739
9
 (HPO:0000953) Hyperpigmentation of the skin 3/5 [HPO:probinson] 75 / 7739
10
 (HPO:0001631) Atria septal defect 2/5 [HPO:probinson] 274 / 7739
11
 (HPO:0001642) Pulmonic stenosis 2/5 [HPO:probinson] 89 / 7739
12
 (HPO:0001252) Muscular hypotonia 990 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).
Clinical Description OMIM Sarkozy et al. (2009) reported 5 unrelated patients with Noonan syndrome-7. Common clinical features included poor neonatal growth, variable feeding difficulties, short stature, mild to moderate cognitive defects, skeletal anomalies, and hypotonia. Dysmorphic facial features included dolichocephaly, prominent ...
Molecular genetics OMIM In 5 (1.9%) of 270 patients with a clinical diagnosis of Noonan syndrome, Sarkozy et al. (2009) identified 4 different heterozygous de novo mutations in the BRAF gene (164757.0022, 164757.0023, 164757.0025, and 164757.0026).