Larynx atresia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr: 1202
OMIM Id: 150300
ICD-10: Q31.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Larynx anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
2
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
3
 (HPO:0003220) Abnormality of chromosome stability Frequent [Orphanet] 98 / 7739
4
 (HPO:0005950) Laryngeal web 5 / 7739
5
 (HPO:0005945) Laryngeal obstruction 1 / 7739
6
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
7
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
8
 (HPO:0001601) Laryngomalacia Very frequent [Orphanet] 61 / 7739
9
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (OMIM) Infantile size larynx 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: