Metadata | |
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ID | DOID:0112239 |
Name | X-linked lissencephaly 1 |
Definition | A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. https://pubmed.ncbi.nlm.nih.gov/9132485/, https://pubmed.ncbi.nlm.nih.gov/9489699/ |
Xrefs | |
Synonyms |
lissencephaly type 1 due to doublecortin gene mutation [EXACT] XLIS1 [EXACT] |
Parent Relationships |
is_a X-linked monogenic disease is_a lissencephaly |
Subclass Logical Relationships |
has material basis in some X-linked inheritance |