Hemimegalencephaly(Unilateral megalencephaly) Explore Disorder's Alias
An Unknown mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Unknown 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 | PIK3CA/5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 3q26.32 | Chr3, NC_000003.12 (179148126..179240093) |
91968 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | RHEB/6009 | Ras homolog, mTORC1 binding | 7q36.1 | Chr7, NC_000007.14 (151466012..151519895, complement) |
53884 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PTEN/5728 | phosphatase and tensin homolog | 10q23.31 | Chr10, NC_000010.11 (87863625..87971930) |
108306 nt | 10 | 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 |