Endocrinology · Endocrinology / Reproductive endocrinology
Perrault syndrome
also: Ovarian dysgenesis with sensorineural deafness
Sensorineural hearing loss in both sexes with ovarian failure in females.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Reproductive endocrinology
- Sex & age distribution
- Male: affected with deafness; Female: affected with deafness and ovarian failure; Children: yes, deafness in childhood
- Gene(s) involved
- CLPP, ERAL1, GGPS1, HARS2, HSD17B4, LARS2, LRPPRC, RMND1, TWNK
- Alternative names & eponyms
- Ovarian dysgenesis with sensorineural deafness
Etiology & mechanism
Defects in mitochondrial translation and protein quality control.
Gene(s) involved (9)
Symptoms & signs (7)
In plain terms, someone with Perrault syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Abetalipoproteinemia
ataxia, neuropathy
2 shared
Androgen insensitivity syndrome
infertility, primary amenorrhea
2 shared
Brown–Vialetto–Van Laere syndrome
ataxia, sensorineural deafness
2 shared
EAST syndrome
ataxia, sensorineural deafness
2 shared
MERRF syndrome
ataxia, neuropathy
2 shared
NARP syndrome
ataxia, neuropathy
2 shared
Wolfram syndrome
ataxia, sensorineural deafness
1 shared
Acquired cerebellar syndrome
ataxia
1 shared
Action myoclonus–renal failure syndrome
ataxia
1 shared
Angelman syndrome
ataxia
Shares genes with
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