lissencephaly 7 with cerebellar hypoplasia

Term ID

DOID:0112231

Synonyms

• LIS7

Definition

A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1. https://pubmed.ncbi.nlm.nih.gov/25560765/

References

• MIM:616342

Ontology

Human Disease   ( DOID:0112231 )