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Human Disease

lissencephaly 8

Term ID
DOID:0112233
Synonyms
  • LIS8
Definition
A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32. https://pubmed.ncbi.nlm.nih.gov/27773428/
References
Ontology
Human Disease   ( DOID:0112233 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models