Waardenburg Syndrome, Type 2e (WS2E)

Waardenburg Syndrome, Type 2e(来自ICD-11)

别称:

Waardenburg Syndrome Type 2

Waardenburg Syndrome Type 2e

Ws2e

Hypogonadotropic Hypogonadism with Anosmia and Deafness with or Without Hypopigmentation

Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement

Waardenburg Syndrome Type 2e with or Without Neurologic Involvement

Waardenburg Syndrome, Type Iie

Waardenburg Syndrome Type Iie

Waardenburg Syndrome Type Ii

Ws2

Hypogonadotropic Hypogonadism with Anosmia and Deafness, with or Without Hypopigmentation

Waardenburg Syndrome, Type 2e, with/without Neurologic Involvement

Kallmann Syndrome and Deafness with or Without Hypopigmentation

Waardenburg Syndrome Type 2e, Without Neurologic Involvement

Ws2e with or Without Neurological Involvement

Ws2e, with or Without Neurologic Involvement

Ws2e with or Without Neurologic Involvement

Waardenburg Syndrome 2e

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Waardenburg Syndrome, Type 2e, also known as waardenburg syndrome type 2, is related to albinism, ocular, with late-onset sensorineural deafness and waardenburg syndrome, type 2c. An important gene associated with Waardenburg Syndrome, Type 2e is SOX10 (SRY-Box Transcription Factor 10), and among its related pathways/superpathways are Signal Transduction and Wnt / Hedgehog / Notch. Affiliated tissues include skin and eye, and related phenotypes are hearing impairment and premature graying of hair

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