Congenital Adrenal Hypoplasia, X-linked(X-linked adrenal hypoplasia congenita) Explore Disorder's Alias
An X-linked recessive mode(s) within the Endocrine disorders category
Candidate Gene Information
An X-linked 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 | NR0B1/190 | nuclear receptor subfamily 0 group B member 1 | Xp21.2 | ChrX, NC_000023.11 (30304206..30309390, complement) |
5185 nt | 2 | 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