GLUTEAL MUSCLES, ABSENCE OF

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 231970
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:0000609) Optic nerve hypoplasia rare [HPO:skoehler] 26 / 7739
2
(HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
3
(HPO:0003298) Spina bifida occulta 67 / 7739
4
(HPO:0009013) Congenital absence of gluteal muscles 1 / 7739
5
(OMIM) Mental retardation (in 2 patients) Learning disability (in 1 patient) 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Carnevale et al. (1976) described a brother and sister with congenital absence of gluteal muscles and with spina bifida occulta. They posited that the sibs were homozygous for a gene that, in heterozygous form in both parents and ...