Lethal congenital contracture syndrome 7

Preferred Label : Lethal congenital contracture syndrome 7;

Symbol : LCCS7;

CISMeF acronym : LCCS7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the contactin-associated protein-like 1 gene (CNTNAP1, 602346.0001);

Prefixed ID : #616286;

Details

Origin ID

616286;

UMLS CUI

C4225386;

Genes related to phenotype
- Contactin-associated protein 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Decreased fetal movement [HPO term]
- Facial diplegia [HPO term]
- Fetal akinesia sequence [HPO term]
- Generalized hypotonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Knee flexion contracture [HPO term]
- Micrognathia [HPO term]
- Oral-pharyngeal dysphagia [HPO term]
- Paralysis [HPO term]
- Polyhydramnios [HPO term]
- Skeletal muscle atrophy [HPO term]
- Small basal ganglia [HPO term]
ORDO concept(s)
- Hypomyelination neuropathy-arthrogryposis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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