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Autosomal recessive limb-girdle muscular dystrophy type 2S
1 OMIM reference -
1 associated gene
19 connected diseases
No signs/symptoms info
Disease Type of connection
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Congenital analbuminemia
Spondyloepiphyseal dysplasia tarda
ADULT syndrome
Adrenocortical carcinoma
Ankyloblepharon - ectodermal defects - cleft lip / palate
B-cell chronic lymphocytic leukemia
Bladder exstrophy
EEC syndrome
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Hereditary breast and ovarian cancer syndrome
Li-Fraumeni syndrome
Limb-mammary syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Split hand-split foot malformation

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
TRAPPC11 Q7Z392614138
No signs/symptoms info available.