Chondrodysplasia-pseudohermaphroditism Syndrome(Nivelon Nivelon Mabille syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Reproductive disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Reproductive 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 | HHAT/55733 | hedgehog acyltransferase | 1q32.2 | Chr1, NC_000001.11 (210327328..210676290) |
348963 nt | 16 | 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