Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum

Preferred Label : Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum;

Symbol : NEDEHCC;

CISMeF acronym : NEDEHCC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lunapark gene (LNPK, 610236.0001);

Prefixed ID : #618090;

Details

Origin ID

618090;

UMLS CUI

C4748137;

Genes related to phenotype
- Lunapark [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysmetria [HPO term]
- Gait disturbance [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inability to walk [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Tremor [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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