Perrault syndrome 6
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- William G Newman
- Thomas B Friedman
- Gerard S Conway
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (7 available)
Clinical features
Help- Abnormality of the genitourinary system
- Irregular menstruation
Irregular menstruation
- MedGen UID: 56379
- Concept ID: C0156404
- Finding: Finding
Abnormality of the genitourinary system
- Premature ovarian insufficiency
Premature ovarian insufficiency
- MedGen UID: 9963
- Concept ID: C0025322
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Primary amenorrhea
Primary amenorrhea
- MedGen UID: 115918
- Concept ID: C0232939
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Secondary amenorrhea
Secondary amenorrhea
- MedGen UID: 115919
- Concept ID: C0232940
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Streak ovary
Streak ovary
- MedGen UID: 78597
- Concept ID: C0266371
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Uterine hypoplasia
Uterine hypoplasia
- MedGen UID: 120575
- Concept ID: C0266399
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Irregular menstruation
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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