Neuropathy, congenital hypomyelinating, 3

Preferred Label : Neuropathy, congenital hypomyelinating, 3;

Symbol : CHN3;

CISMeF acronym : CHN3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the contactin-associated protein 1 gene (CNTNAP1, 602346.0004);

Prefixed ID : #618186;

Details

Origin ID

618186;

UMLS CUI

C4748608;

Genes related to phenotype
- Contactin-associated protein 1 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- CNS hypomyelination [HPO term]
- Cachexia [HPO term]
- Cerebellar atrophy [HPO term]
- Congenital onset [HPO term]
- Decreased fetal movement [HPO term]
- Dolichocephaly [HPO term]
- Dystonia [HPO term]
- Epicanthus [HPO term]
- Facial diplegia [HPO term]
- Flexion contracture [HPO term]
- Gastroesophageal reflux [HPO term]
- Gingival overgrowth [HPO term]
- Hand clenching [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Limb joint contracture [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Polyhydramnios [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Thick vermilion border [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Hypomyelination neuropathy-arthrogryposis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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