Human Phenotype Ontology 
Grandparent Node:
expandAbnormal cortical gyration (HP:0002536)help
Parent Node:
expandLissencephaly (HP:0001339)help
..Starting node
..expandMicrolissencephaly (HP:0045028)help
Term ID: 45028
Name: Microlissencephaly
Synonym: Lissencephaly type III; Type 3 lissencephaly; Type III lissencephaly
Definition: Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements.
Comments:
Reference: HP:0045028
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expand4-layered lissencephaly (HP:0006818) help
..expandAgyria (HP:0031882) help
..expandFocal lissencephaly (HP:0007187) help
..expandPachygyria (HP:0001302) help
..expandType II lissencephaly (HP:0007260) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0045028HP:0045028Microlissencephaly0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0045028HP:0045028Microlissencephaly0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly.10
HP:0045028HP:0045028Microlissencephaly0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040281 - Very frequent10
HP:0045028HP:0045028Microlissencephaly0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040281 - Very frequent96
HP:0045028HP:0045028Microlissencephaly0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040281 - Very frequent334
HP:0045028HP:0045028Microlissencephaly0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15


Genes (5) :CIT KATNB1 NDE1 RELN RNU4ATAC

Diseases (4) :OMIM:617090 OMIM:616212 ORPHA:89844 OMIM:210710
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.