MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION

General Information (adopted from Orphanet):

Synonyms, Signs: MEXICAN CARDIOMELIC DYSPLASIA
Number of Symptoms 17
OrphanetNr:
OMIM Id: 249670
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:0003241) External genital hypoplasia 25 / 7739
2
 (HPO:0000473) Torticollis 42 / 7739
3
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
4
 (HPO:0001256) Intellectual disability, mild 141 / 7739
5
 (HPO:0001161) Hand polydactyly 71 / 7739
6
 (HPO:0004150) Abnormality of the 3rd finger 1 / 7739
7
 (HPO:0004322) Short stature 1232 / 7739
8
 (HPO:0001629) Ventricular septal defect 316 / 7739
9
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
10
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
11
 (HPO:0001642) Pulmonic stenosis 89 / 7739
12
 (HPO:0001631) Atria septal defect 274 / 7739
13
 (OMIM) Ocular torticollis 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Mesoaxial hexadactyly 1 / 7739
16
 (OMIM) Bifid third finger 1 / 7739
17
 (OMIM) Pulmonic valvular stenosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: