Encephalopathy, acute, infection-induced, susceptibility to, 9

Preferred Label : Encephalopathy, acute, infection-induced, susceptibility to, 9;

Symbol : IIAE9;

CISMeF acronym : IIAE9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nucleoporin, 214-kd gene (NUP214, 114350.0001);

Laboratory abnormalities : Hyponatremia;

Prefixed ID : #618426;

Détails

Origin ID

618426;

UMLS CUI

C5193089;

Genes related to phenotype
- Nucleoporin, 214-kd [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Developmental regression [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Hyponatremia [HPO term]
- Infantile onset [HPO term]
- Microcephaly [HPO term]
- Myoclonus [HPO term]
- Progressive [HPO term]
- Respiratory distress [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]

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