Kw 0451
cv_term_accession
KW-0451
canonical
uniprot_keyword
KW-0451
canonical
name
Lissencephaly
uniprot
definition
Protein which, if defective, causes lissencephaly, a brain malformation characterized by the absence (agyria) or reduction (pachygyria) of brain surface convolutions (gyri), in association with abnormal organisation of the cortical layers. It results from neuronal migration defects during embryogenesis. Two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly. Lissencephaly means "smooth brain".
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords