Human Phenotype Ontology 
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..expandSubcortical band heterotopia (HP:0032409)help
Term ID: 32409
Name: Subcortical band heterotopia
Synonym:
Definition: A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum.
Comments:
Reference: HP:0032409
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032409HP:0032409Subcortical band heterotopia0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0032409HP:0032409Subcortical band heterotopia0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0032409HP:0032409Subcortical band heterotopia0EML1 CL E G H20093330OMIM:600348Band heterotopia.3
HP:0032409HP:0032409Subcortical band heterotopia0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0032409HP:0032409Subcortical band heterotopia0KIF2A CL E G H37966318OMIM:615411Cortical dysplasia, complex, with other brain malformations 3.15
HP:0032409HP:0032409Subcortical band heterotopia0LAMB1 CL E G H39126486OMIM:615191Lissencephaly 5.71
HP:0032409HP:0032409Subcortical band heterotopia0PAFAH1B1 CL E G H50488574OMIM:607432Lissencephaly 1.231
HP:0032409HP:0032409Subcortical band heterotopia0TUBB CL E G H20306820778OMIM:615771Cortical dysplasia, complex, with other brain malformations 614
HP:0032409HP:0032409Subcortical band heterotopia0TUBG1 CL E G H728312417OMIM:615412Cortical dysplasia, complex, with other brain malformations 4.14
HP:0032409HP:0032409Subcortical band heterotopia0TUBGCP2 CL E G H1084418599OMIM:618737PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0032409HP:0032413Diffuse subcortical band heterotopia1 CL E G H
HP:0032409HP:0032412Anterior predominant subcortical band heterotopia1 CL E G H
HP:0032409HP:0032411Posterior predominant subcortical band heterotopia1CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101


Genes (10) :CEP85L DCHS1 EML1 FAT4 KIF2A LAMB1 PAFAH1B1 TUBB TUBG1 TUBGCP2

Diseases (10) :OMIM:618873 OMIM:601390 OMIM:600348 OMIM:615546 OMIM:615411 OMIM:615191 OMIM:607432 OMIM:615771 OMIM:615412 OMIM:618737
 

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