Details of Disease

General Information of Disease (ID: DISFQY9L)

Disease Name Lissencephaly 4
Synonyms
LIS4; lissencephaly 4 with microcephaly; lissencephaly 4, with microcephaly; lissencephaly 4 (with microcephaly); NDE1 lissencephaly (disease); lissencephaly type 4; lissencephaly 4; lissencephaly (disease) caused by mutation in NDE1
Definition Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.
Disease Hierarchy
DISUCKNT: Microlissencephaly
DISBCZL7: Lissencephaly spectrum disorders
DIS12Z5V: Microcephaly with lissencephaly and/or hydranencephaly
DISFQY9L: Lissencephaly 4
Disease Identifiers
MONDO ID
MONDO_0013527
UMLS CUI
C3151461
OMIM ID
614019
MedGen ID
462811

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
NDE1 OT2N8Q17 Definitive Autosomal recessive [1]
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References

1 Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13;88(5):536-47. doi: 10.1016/j.ajhg.2011.04.003. Epub 2011 Apr 28.