Pontocerebellar Hypoplasia Type 9(AMPD2 non-syndromic pontocerebellar hypoplasia)
An Autosomal recessive mode(s) within the Neuromuscular disorders category
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Reported Pathogenic variants
Candidate Gene Information
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | AMPD2/271 | adenosine monophosphate deaminase 2 | 1p13.3 | Chr1, NC_000001.11 (109619837..109632055) |
12219 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities