ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 106990
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:0010743) Short metatarsal 56 / 7739
2
 (HPO:0009835) Aplasia/Hypoplasia of the distal phalanges of the hand 9 / 7739
3
 (HPO:0001964) Aplasia/Hypoplasia of metatarsal bones 5 / 7739
4
 (HPO:0005831) Type B brachydactyly 3 / 7739
5
 (HPO:0001171) Split hand 72 / 7739
6
 (HPO:0100257) Ectrodactyly 27 / 7739
7
 (HPO:0002164) Nail dysplasia 82 / 7739
8
 (HPO:0008404) Nail dystrophy 89 / 7739
9
 (HPO:0001798) Anonychia 28 / 7739
10
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: