Perrault Syndrome 1(XX gonodal dysgenesis-deafness syndrome) 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 | HSD17B4/3295 | hydroxysteroid 17-beta dehydrogenase 4 | 5q23.1 | Chr5, NC_000005.10 (119452497..119542332) |
89836 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PRORP/9692 | protein only RNase P catalytic subunit | 14q13.2 | Chr14, NC_000014.9 (35121839..35277622) |
155784 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | FBN1/2200 | fibrillin 1 | 15q21.1 | Chr15, NC_000015.10 (48408313..48645709, complement) |
237397 nt | 68 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CLPP/8192 | caseinolytic mitochondrial matrix peptidase proteolytic subunit | 19p13.3 | Chr19, NC_000019.10 (6361531..6370242) |
8712 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 | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |