Human Phenotype
Ontology
Grandparent Node: Abnormal cortical gyration (HP:0002536) Parent Node: Lissencephaly (HP:0001339) ..Starting node Type II lissencephaly (HP:0007260)
Term ID: 7260
Name: Type II lissencephaly
Synonym: Cobblestone lissencephaly; Lissencephaly type II; Type 2 lissencephaly
Definition: A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.
Comments:
Reference: HP:0007260
Genes and Diseases: Child Nodes: Sister Nodes: ..4-layered lissencephaly (HP:0006818) ..Agyria (HP:0031882) ..Focal lissencephaly (HP:0007187) ..Microlissencephaly (HP:0045028) ..Pachygyria (HP:0001302) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0007260 HP:0007260 Type II lissencephaly 0 B3GALNT2 CL E G H 148789 28596 OMIM:615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 . 43 HP:0007260 HP:0007260 Type II lissencephaly 0 B4GAT1 CL E G H 11041 15685 OMIM:615287 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 . 17 HP:0007260 HP:0007260 Type II lissencephaly 0 CRPPA CL E G H 729920 37276 OMIM:614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 . HP:0007260 HP:0007260 Type II lissencephaly 0 FKRP CL E G H 79147 17997 ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0040282 - Frequent 157 HP:0007260 HP:0007260 Type II lissencephaly 0 FKRP CL E G H 79147 17997 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 157 HP:0007260 HP:0007260 Type II lissencephaly 0 FKRP CL E G H 79147 17997 OMIM:613153 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 . 157 HP:0007260 HP:0007260 Type II lissencephaly 0 FKTN CL E G H 2218 3622 ORPHA:272 Congenital muscular dystrophy, Fukuyama type HP:0040281 - Very frequent 184 HP:0007260 HP:0007260 Type II lissencephaly 0 FKTN CL E G H 2218 3622 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 184 HP:0007260 HP:0007260 Type II lissencephaly 0 FKTN CL E G H 2218 3622 OMIM:253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 . 184 HP:0007260 HP:0007260 Type II lissencephaly 0 GMPPB CL E G H 29925 22932 ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0040282 - Frequent 34 HP:0007260 HP:0007260 Type II lissencephaly 0 LAMB1 CL E G H 3912 6486 ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement HP:0040282 - Frequent 71 HP:0007260 HP:0007260 Type II lissencephaly 0 LAMB1 CL E G H 3912 6486 OMIM:615191 Lissencephaly 5 71 HP:0007260 HP:0007260 Type II lissencephaly 0 LARGE1 CL E G H 9215 6511 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 136 HP:0007260 HP:0007260 Type II lissencephaly 0 LARGE1 CL E G H 9215 6511 OMIM:613154 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 . 136 HP:0007260 HP:0007260 Type II lissencephaly 0 POMGNT1 CL E G H 55624 19139 ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0040282 - Frequent 180 HP:0007260 HP:0007260 Type II lissencephaly 0 POMGNT1 CL E G H 55624 19139 OMIM:253280 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 . 180 HP:0007260 HP:0007260 Type II lissencephaly 0 POMGNT2 CL E G H 84892 25902 OMIM:614830 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 . 33 HP:0007260 HP:0007260 Type II lissencephaly 0 POMK CL E G H 84197 26267 ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0040282 - Frequent 18 HP:0007260 HP:0007260 Type II lissencephaly 0 POMK CL E G H 84197 26267 OMIM:615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 HP:0040283 - Occasional 18 HP:0007260 HP:0007260 Type II lissencephaly 0 POMT1 CL E G H 10585 9202 ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0040282 - Frequent 213 HP:0007260 HP:0007260 Type II lissencephaly 0 POMT1 CL E G H 10585 9202 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 213 HP:0007260 HP:0007260 Type II lissencephaly 0 POMT2 CL E G H 29954 19743 ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0040282 - Frequent 221 HP:0007260 HP:0007260 Type II lissencephaly 0 POMT2 CL E G H 29954 19743 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 221 HP:0007260 HP:0007260 Type II lissencephaly 0 POMT2 CL E G H 29954 19743 OMIM:613150 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 221 HP:0007260 HP:0007260 Type II lissencephaly 0 RXYLT1 CL E G H 10329 13530 OMIM:615041 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10 . HP:0007260 HP:0007260 Type II lissencephaly 0 TMTC3 CL E G H 160418 26899 OMIM:617255 Lissencephaly 8 5 HP:0007260 HP:0007260 Type II lissencephaly 0 TUBB3 CL E G H 10381 20772 ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0040282 - Frequent 64
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
