Pontocerebellar Hypoplasia Type 7(Congenital pontocerebellar hypoplasia type 7) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal recessive 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 | TOE1/114034 | target of EGR1, exonuclease | 1p34.1 | Chr1, NC_000001.11 (45340170..45343973) |
3804 nt | 8 | 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 | ||||||||
Patient care services
Clinical Symptoms & Disabilities