Details of Disease

General Information of Disease (ID: DIS74G5S)

Disease Name Cobblestone lissencephaly without muscular or ocular involvement
Synonyms
lissencephaly 5; LIS5; cobblestone lissencephaly without muscular or ocular involvement; lissencephaly type 2 without muscular or ocular involvement; lissencephaly type 5; cobblestone lissencephaly without muscular or eye involvement; lissencephaly type 2 without muscular or eye involvement
Definition
Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.
Disease Hierarchy
DIS56826: Cobblestone lissencephaly
DIS74G5S: Cobblestone lissencephaly without muscular or ocular involvement
Disease Identifiers
MONDO ID
MONDO_0014077
UMLS CUI
C3554657
OMIM ID
615191
MedGen ID
767571
Orphanet ID
352682

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LAMB1 OT6J9LJR Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.