Lissencephaly 7 with cerebellar hypoplasia

Preferred Label : Lissencephaly 7 with cerebellar hypoplasia;

Symbol : LIS7;

CISMeF acronym : LIS7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cyclin-dependent kinase 5 gene (CDK5, 123831.0001);

Prefixed ID : #616342;

Details

Origin ID

616342;

UMLS CUI

C4225359;

Genes related to phenotype
- Cyclin-dependent kinase 5 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Agyria [HPO term]
- Areflexia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital onset [HPO term]
- Full cheeks [HPO term]
- Global developmental delay [HPO term]
- Hand clenching [HPO term]
- Hirsutism [HPO term]
- Lissencephaly [HPO term]
- Lymphedema [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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