STICKLER SYNDROME, TYPE V

General Information (adopted from Orphanet):

Synonyms, Signs: STL5
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614284
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000541) Retinal detachment 87 / 7739
2
(HPO:0000655) Vitreoretinal degeneration 8 / 7739
3
(HPO:0011003) Severe Myopia 31 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Adult height, average 1 / 7739
6
(OMIM) Short stature in childhood 1 / 7739
7
(OMIM) Hearing loss, sensorineural, mild to moderate 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Baker et al. (2011) studied a large 5-generation consanguineous pedigree of Asian Indian origin segregating autosomal recessive Stickler syndrome. Affected family members had high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. None of ...
Molecular genetics OMIM In a large 5-generation consanguineous pedigree of Asian Indian origin segregating autosomal recessive Stickler syndrome, Baker et al. (2011) analyzed 3 candidate collagen IX-related genes and identified homozygosity for an 8-bp deletion in the COL9A2 gene (120260.0006) in ...