OBO ID: DOID:0112229
Term Name: lissencephaly 10 Search Ontology:
Synonyms:
  • LIS10
Definition: A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31. https://pubmed.ncbi.nlm.nih.gov/32097630/
References:
Ontology: Human Disease   ( DOID:0112229 )
Relationships
is a type of:
OTHER lissencephaly 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP85L Lissencephaly 10 618873
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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