Absence deformity of leg - cataract

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 2310
OMIM Id: 246000
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: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0000519) Congenital cataract 73 / 7739
2
(HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
3
(HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
4
(HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
5
(HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
6
(HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
7
(HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
8
(HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
9
(HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) Progressive scoliosis 6 / 7739
12
(OMIM) Absent leg 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 distantly related Amish boys, McKusick et al. (1968) observed absence deformity of the left leg, congenital cataract, and progressive scoliosis. One of the boys had also partial duplication of the left foot, imperforate anus, and partial ...