NOONAN SYNDROME 6

General Information (adopted from Orphanet):

Synonyms, Signs: NS6
Number of Symptoms 15
OrphanetNr:
OMIM Id: 613224
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000028) Cryptorchidism obligate [HPO:skoehler] 347 / 7739
2
(HPO:0000316) Hypertelorism obligate [HPO:skoehler] 644 / 7739
3
(HPO:0000256) Macrocephaly 3 of 4 [HPO:skoehler] 298 / 7739
4
(HPO:0000465) Webbed neck obligate [HPO:skoehler] 81 / 7739
5
(HPO:0000545) Myopia 2 of 4 [HPO:skoehler] 286 / 7739
6
(HPO:0000369) Low-set ears obligate [HPO:skoehler] 372 / 7739
7
(HPO:0001256) Intellectual disability, mild 2 of 4 [HPO:skoehler] 141 / 7739
8
(HPO:0000750) Delayed speech and language development 1 of 4 [HPO:skoehler] 197 / 7739
9
(HPO:0001555) Asymmetry of the thorax obligate [HPO:skoehler] 15 / 7739
10
(HPO:0004322) Short stature obligate [HPO:skoehler] 1232 / 7739
11
(HPO:0000962) Hyperkeratosis obligate [HPO:skoehler] 216 / 7739
12
(HPO:0002212) Curly hair obligate [HPO:skoehler] 21 / 7739
13
(HPO:0001642) Pulmonic stenosis 3 of 4 [HPO:skoehler] 89 / 7739
14
(HPO:0001639) Hypertrophic cardiomyopathy 3 of 4 [HPO:skoehler] 137 / 7739
15
(HPO:0001290) Generalized hypotonia obligate [HPO:skoehler] 51 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cirstea et al. (2010) reported 4 unrelated probands with Noonan syndrome-6. One proband had an affected mother. The ages of the patients ranged from 3.3 to 50 years. All patients had typical and somewhat variable clinical features of ...
Molecular genetics OMIM In 5 patients, including a mother and son, with Noonan syndrome-6, Cirstea et al. (2010) identified 1 of 2 different heterozygous mutations in the NRAS gene (T50I; 164790.0004 and G60E; 164790.0005). The mutations were de novo in 3 ...