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Characteristics of patients in different symptom clusters.

NIAID Data Ecosystem2026-05-02 收录

临床表型分析

临床症状聚类

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Characteristics of patients in different symptom clusters.

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创建时间：

2025-01-29

遗传学

临床表型分析

Recessive mutations in the SLC26A4 gene are responsible for nonsyndromic enlarged vestibular aqueduct (EVA) and Pendred syndrome. However, in some affected families, only 1 or 0 mutated allele

DataCite Commons2020-09-02 更新300

Clinical characteristics of patients diagnosed with a genetic obesity disorder with ID.

肥胖性状遗传

临床表型分析

Clinical characteristics of patients diagnosed with a genetic obesity disorder with ID.

NIAID Data Ecosystem70

Summary of Clinical Data for 20 Chinese WS2 Patients.

Waardenburg综合征

临床表型分析

A, complete heterochromia iridis; B, partial or segmental heterochromia iridis; C, brilliant blue iris; Skin, numerous brown freckles on the face, trunk, and limb extremities; W, W index; HL, hearing

NIAID Data Ecosystem40

Demographic and clinical characteristics of PD APOE4 carriers and non-carriers.

帕金森病遗传学

临床表型分析

Demographic and clinical characteristics of PD APOE4 carriers and non-carriers.

Figshare2026-01-20 更新70

Supplementary Material for: Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review

神经发育障碍遗传学

临床表型分析

Introduction: Autosomal dominant pathogenic variations in the CSNK2A1 gene cause Okur-Chung neurodevelopmental syndrome (OCNDS). Methods: The proband and her parents were examined thoroughly and obser

NIAID Data Ecosystem40

Characteristics of patients in different symptom clusters.

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