ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 601348
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:0000347) Micrognathia 426 / 7739
2
 (HPO:0000581) Blepharophimosis 197 / 7739
3
 (HPO:0001839) Split foot 28 / 7739
4
 (HPO:0001629) Ventricular septal defect 316 / 7739
5
 (HPO:0010954) Hypoplastic right heart 2 / 7739
6
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
7
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
8
 (HPO:0012745) Short palpebral fissure 47 / 7739
9
 (OMIM) Ectrodactyly of lower limbs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: