Perrault Syndrome

Perrault Syndrome(来自ICD-11)

别称:

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Xx Gonodal Dysgenesis-Deafness Syndrome

Gonadal Dysgenesis with Sensorineural Deafness, Autosomal Recessive Inheritance

Gonadal Dysgenesis with Auditory Dysfunction, Autosomal Recessive Inheritance

Ovarian Dysgenesis with Sensorineural Deafness

Gonadal Dysgenesis, Xx Type, with Deafness

Gonadal Dysgenesis Xx Type Deafness

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Perrault Syndrome, also known as xx gonodal dysgenesis-hearing loss syndrome, is related to perrault syndrome 6 and perrault syndrome 4. An important gene associated with Perrault Syndrome is LARS2 (Leucyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Primary ovarian insufficiency and tRNA Aminoacylation. Affiliated tissues include testis and heart.

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