Hypomyelinating Leukodystrophy 6(Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC)) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neurodegenerative 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 | TUBB4A/10382 | tubulin beta 4A class IVa | 19p13.3 | Chr19, NC_000019.10 (6494319..6502848, complement) |
8530 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities