AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 26
OrphanetNr:
OMIM Id: 104350
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:0008705) Ureteral triplication 1 / 7739
2
 (HPO:0000126) Hydronephrosis 119 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
5
 (HPO:0000286) Epicanthus 371 / 7739
6
 (HPO:0000316) Hypertelorism 644 / 7739
7
 (HPO:0000431) Wide nasal bridge 290 / 7739
8
 (HPO:0005280) Depressed nasal bridge 381 / 7739
9
 (HPO:0000508) Ptosis 459 / 7739
10
 (HPO:0000369) Low-set ears 372 / 7739
11
 (HPO:0100783) Breast aplasia 19 / 7739
12
 (HPO:0002561) Absent nipple 12 / 7739
13
 (HPO:0003187) Breast hypoplasia 17 / 7739
14
 (HPO:0002967) Cubitus valgus 49 / 7739
15
 (HPO:0000767) Pectus excavatum 244 / 7739
16
 (HPO:0002650) Scoliosis 705 / 7739
17
 (HPO:0001374) Congenital hip dislocation 51 / 7739
18
 (HPO:0002937) Hemivertebrae 41 / 7739
19
 (HPO:0001159) Syndactyly 140 / 7739
20
 (HPO:0001537) Umbilical hernia 206 / 7739
21
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
22
 (HPO:0001634) Mitral valve prolapse 69 / 7739
23
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
24
 (OMIM) Tapered digits 4 / 7739
25
 (HPO:0000238) Hydrocephalus 278 / 7739
26
 (OMIM) Dysmorphic ears 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: