Perrault Syndrome 6; Prlts6

Clinical Features

Phenotypes and symptoms related to Perrault Syndrome 6; Prlts6

  • Hearing impairment
  • Sensorineural hearing impairment
  • Amenorrhea
  • Primary amenorrhea
  • Premature ovarian insufficiency
  • Hypoplasia of the uterus
  • Secondary amenorrhea

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Perrault Syndrome 6; Prlts6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ERAL1.

By Fulgent Genetics Fulgent Genetics (United States).

ERAL1
Specificity
100 %
Genes
100 %
PERRAULT SYNDROME.

By Laboratorio de Genetica Clinica SL (Spain).

TWNK, LARS2, CLPP, ERAL1, HARS2, HSD17B4
Specificity
17 %
Genes
100 %

We have -6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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