Lethal congenital contracture syndrome 9

Preferred Label : Lethal congenital contracture syndrome 9;

Symbol : LCCS9;

CISMeF acronym : LCCS9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the G protein-coupled receptor-126 gene (GPR126, 612243.0001);

Prefixed ID : #616503;

Details

Origin ID

616503;

UMLS CUI

C4225303;

Automatic exact mappings (from CISMeF team)
- ADGRG6 wt Allele [NCIt concept]
Genes related to phenotype
- Adhesion g protein-coupled receptor g6 [OMIM gene]
HPO term(s)
- Abnormality of the diaphragm [HPO term]
- Adducted thumb [HPO term]
- Ankylosis [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital contracture [HPO term]
- Decreased fetal movement [HPO term]
- Depressed nasal bridge [HPO term]
- Hypertelorism [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Myopathy [HPO term]
- Polyhydramnios [HPO term]
- Preeclampsia [HPO term]
- Pulmonary hypoplasia [HPO term]
- Scoliosis [HPO term]
- Short umbilical cord [HPO term]
- Talipes equinovarus [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular face [HPO term]
- Ulnar deviation of the hand [HPO term]
- Ulnar deviation of the hand or of fingers of the hand [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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