Congenital myopathy 12

Preferred Label : Congenital myopathy 12;

Symbol : CMYO12;

CISMeF acronym : MYPCN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MYPCN; Myopathy, congenital, compton-north;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the contactin 1 gene (CNTN1, 600016.0001);

Laboratory abnormalities : Normal serum creatine kinase;

Prefixed ID : #612540;

Details

Origin ID

612540;

UMLS CUI

C2675527;

Currated CISMeF NLP mapping
- Compton-North congenital myopathy [DO Concept]
- Congenital lethal myopathy Compton North type (disorder) [SNOMED CT concept]
- Congenital lethal myopathy, Compton-North type [ORDO Disease]
- myopathy, congenital, Compton-North [MeSH concept]
- myopathy, congenital, Compton-North [MeSH Supplementary Concept]
DO Cross reference
- Compton-North congenital myopathy [DO Concept]
Genes related to phenotype
- Contactin 1 [OMIM gene]
HPO term(s)
- Akinesia [HPO term]
- Arachnodactyly [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Death in infancy [HPO term]
- Decreased fetal movement [HPO term]
- Dolichocephaly [HPO term]
- Fetal akinesia sequence [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Joint contracture of the hand [HPO term]
- Neonatal hypotonia [HPO term]
- Oval face [HPO term]
- Overlapping fingers [HPO term]
- Polyhydramnios [HPO term]
- Poor suck [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scaphocephaly [HPO term]
- Small for gestational age [HPO term]
Not associated HPO term(s)
- Abnormal circulating creatine kinase concentration [HPO term]
ORDO concept(s)
- Congenital lethal myopathy, Compton-North type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Compton-North congenital myopathy [DO Concept]
- Congenital lethal myopathy, Compton-North type [ORDO Disease]
- myopathy, congenital, Compton-North [MeSH Supplementary Concept]
- myopathy, congenital, Compton-North [MeSH concept]

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