Neonatal Severe Primary Hyperparathyroidism(Hyperparathyroidism, Neonatal Severe Primary) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Endocrine disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Endocrine 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 | CASR/846 | calcium sensing receptor | 3q21.1 | Chr3, NC_000003.12 (122183668..122291629) |
107962 nt | 11 | 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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Clinical Symptoms & Disabilities