Arthrogryposis multiplex congenita 6

Preferred Label : Arthrogryposis multiplex congenita 6;

Symbol : AMC6;

Type : Phenotype, molecular basis known;

Prefixed ID : #619334;

Details

Origin ID

619334;

UMLS CUI

C5543431;

Genes related to phenotype
- Nebulin [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Akinesia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in childhood [HPO term]
- Death in infancy [HPO term]
- Decreased fetal movement [HPO term]
- Hypospadias [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Large fontanelles [HPO term]
- Nemaline bodies [HPO term]
- Neonatal death [HPO term]
- Polyhydramnios [HPO term]
- Respiratory failure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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