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 31 - 37 of 37 in total
Gene ID Gene Symbol Description Source
56953 NT5M 5',3'-nucleotidase, mitochondrial
79147 FKRP fukutin related protein
84197 POMK protein O-mannose kinase
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
160418 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
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

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024