Hypomyelination And Congenital Cataract(Hypomyelinating leukodystrophy 5) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Multisystemic 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 | HYCC1/84668 | hyccin PI4KA lipid kinase complex subunit 1 | 7p15.3 | Chr7, NC_000007.14 (22895843..23014130, complement) |
118288 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | STAG3/10734 | STAG3 cohesin complex component | 7q22.1 | Chr7, NC_000007.14 (100177724..100219334) |
41611 nt | 37 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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