Miller-Dieker lissencephaly syndrome

Summary
Synonym
  • MDS
  • Miller-Dieker syndrome
Definition
A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
Super Class
autosomal dominant disease syndrome
External Links
Disease Ontology
DOID:0060469
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 21 - 30 of 37 in total
Gene ID Gene Symbol Description Source
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
23236 PLCB1 phospholipase C beta 1
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
29954 POMT2 protein O-mannosyltransferase 2
50814 NSDHL NAD(P) dependent steroid dehydrogenase-like
51196 PLCE1 phospholipase C epsilon 1
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
The Human Phenotype Ontology
Displaying entries 1 - 10 of 18 in total
HPO ID HPO Term
HP:0001251 Ataxia
HP:0002353 EEG abnormality
HP:0000348 High forehead
HP:0001561 Polyhydramnios
HP:0000177 Abnormal upper lip morphology
HP:0002079 Hypoplasia of the corpus callosum
HP:0000960 Sacral dimple
HP:0004209 Clinodactyly of the 5th finger
HP:0001510 Growth delay
HP:0000112 Nephropathy
Displaying 1 entry
Gene ID Gene Symbol Description
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1

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Acknowledgements

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Last updated: August 19, 2024