| Disease Aliases (17) | Gonadal dysgenesis, xx type, with deafness Gonadal dysgenesis xx type deafness Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance Gonadal dysgenesis, xx type Hsd17b4 perrault syndrome Ovarian dysgenesis with sensorineural deafness Prlts1 Perrault syndrome 1; prlts1 Perrault syndrome caused by mutation in hsd17b4 Perrault syndrome type 1 Xx gonodal dysgenesis - deafness Xx gonodal dysgenesis-deafness syndrome Xx gonodal dysgenesis-hearing loss syndrome Gonadal dysgenesis, 20 type, with deafness |
Associated Genes (6) NCBI-RefSeq: ERAL1 (Era like 12S mitochondrial rRNA chaperone 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: HSD17B4 (Hydroxysteroid 17-beta dehydrogenase 4) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: HARS2 (Histidyl-tRNA synthetase 2, mitochondrial) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: LARS2 (Leucyl-tRNA synthetase 2, mitochondrial) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: TWNK (Twinkle mtDNA helicase) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: CLPP (Caseinolytic mitochondrial matrix peptidase proteolytic subunit) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Perrault syndrome 1 | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |