Neuropathy, congenital hypomyelinating, 2

Preferred Label : Neuropathy, congenital hypomyelinating, 2;

Symbol : CHN2;

CISMeF acronym : CHN2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myelin protein zero gene (MPZ, 159440.0013);

Prefixed ID : #618184;

Details

Origin ID

618184;

UMLS CUI

C4722277;

Genes related to phenotype
- Myelin protein zero [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased fetal movement [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Delayed ability to walk [HPO term]
- Facial diplegia [HPO term]
- Hypokinesia [HPO term]
- Hyporeflexia [HPO term]
- Inability to walk [HPO term]
- Motor delay [HPO term]
- Poor head control [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Severe muscular hypotonia [HPO term]
- Skeletal muscle atrophy [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Dejerine-Sottas syndrome [ORDO Disease]
See also inter- (CISMeF)
- CHN2 Gene [NCIt concept]
- chimerin 2 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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