Ateleiotic Dwarfism(Isolated growth hormone deficiency type ia) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Endocrine disorders category
Candidate Gene Information
An Autosomal recessive 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 | GH1/2688 | growth hormone 1 | 17q23.3 | Chr17, NC_000017.11 (63917203..63918839, complement) |
1637 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | BRCA2/675 | BRCA2 DNA repair associated | 13q13.1 | Chr13, NC_000013.11 (32315508..32400268) |
84761 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | XRCC4/7518 | X-ray repair cross complementing 4 | 5q14.2 | Chr5, NC_000005.10 (83077547..83374473) |
296927 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CRIPT/9419 | CXXC repeat containing interactor of PDZ3 domain | 2p21 | Chr2, NC_000002.12 (46617215..46630176) |
12962 nt | 5 | 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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