LATERALITY DEFECTS, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 601086
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:0001746) Asplenia 19 / 7739
2
(HPO:0001696) Situs inversus totalis 44 / 7739
3
(HPO:0001507) Growth abnormality 36 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Heterotaxy 1 / 7739
6
(MedDRA:10052752) Accessory liver lobe 3 / 7739
7
(OMIM) Complex cardiac malformation 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Heterotaxy results from failure to establish normal left-right (L-R) asymmetry during embryonic development. Other than X-linked visceral heterotaxy (306955), most familial cases are thought to be autosomal recessive. Casey et al. (1996) identified a family in which 4 ...