lissencephaly

Term ID

DOID:0050453

Synonyms

Definition

A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. (2)

References

GARD:12291
ICD10CM:Q04.3
MESH:D054082
NCI:C103921
OMIM:PS607432
ORDO:102009
SNOMEDCT_US_2023_03_01:204036008
SNOMEDCT_US_2023_03_01:23024003
UMLS_CUI:C0266463
UMLS_CUI:C0266483

Ontology

Human Disease ( DOID:0050453 )

Relationships

is a type of: congenital nervous system abnormality

congenital nervous system abnormality Show first 5 Terms
has subtype: lissencephaly 1 lissencephaly 3 lissencephaly 5 lissencephaly 7 with cerebellar hypoplasia lissencephaly 8 ... Show All 12 Terms

lissencephaly 1 lissencephaly 3 lissencephaly 5 lissencephaly 7 with cerebellar hypoplasia lissencephaly 8 lissencephaly 9 with complex brainstem malformation lissencephaly 10 microlissencephaly Norman-Roberts syndrome pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures X-linked lissencephaly 1 X-linked lissencephaly 2 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations