Subcortical Band Heterotopia(Subcortical laminar heterotopia) Explore Disorder's Alias
An Autosomal recessive, X-linked dominant mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal recessive, X-linked dominant mode(s) within the Neurodevelopmental disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | PAFAH1B1/5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 17p13.3 | Chr17, NC_000017.11 (2593183..2685615) |
92433 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | DCX/1641 | doublecortin | Xq23 | ChrX, NC_000023.11 (111293779..111412192, complement) |
118414 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |