THYMIC APLASIA WITH FETAL DEATH

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 274210
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:0012300) Ureteral agenesis 2 / 7739
2
 (HPO:0000104) Renal agenesis 68 / 7739
3
 (HPO:0000818) Abnormality of the endocrine system 26 / 7739
4
 (HPO:0001507) Growth abnormality 36 / 7739
5
 (HPO:0001660) Truncus arteriosus 21 / 7739
6
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
7
 (OMIM) Thymic agenesis 1 / 7739
8
 (OMIM) No parathyroid tissue 1 / 7739
9
 (OMIM) Single atrium and ventricle 1 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (HPO:0003826) Stillbirth 40 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: