Intellectual Disability, Diagnosed

Name: Intellectual Disability, Diagnosed
Creator: PEDSnet
Published: 2025-10-14T18:33:03+08:00

DataCite Commons2026-04-21 更新2026-05-04 收录

智力障碍

患者识别

数据链接：

https://pedsnet.org/metadata/handle/20.500.14642/612 数据链接链接失效反馈

官方服务：

资源简介：

This concept set is inteded to identify patients with a diagnosis of intellectual disability.

提供机构：

PEDSnet

创建时间：

2025-10-14

Supplementary Material for: Dandy-Walker Malformation in a girl with DDX3X-related intellectual disability

基因变异

智力障碍

We report on a 4 years old female patient who presented with severe intellectual disability, autistic features, hyperlaxity of joints and progressive scoliosis. Whole exome sequencing identified a nov

DataCite Commons2025-06-01 更新100

The influence of intellectual disability on life expectancy

智力障碍

寿命

The influence of intellectual disability on life expectancy

Global Health Data Exchange ()60

Expression, subcellular localization, and mechanistic analysis of intellectual disability syndrome protein ABBA

神经生物学

智力障碍

A missense mutation in the MTSS2 gene, which encodes the I-BAR domain protein ABBA (Mtss1l/Mtss2), has been linked to an intellectual disability syndrome. To better understand the MTSS2 mutation-relat

DataONE2025-12-16 更新50

Features of the reasoning of the intellectual disabled student in the light of genetic epistemology reasoning intellectually disabled

智力障碍

认知发展

Abstract This research aimed to understand the singularities of the reasoning of 28 students with intellectual disabilities through the contributions of Genetic Epistemology and empirical research. Th

DataCite Commons2022-06-06 更新70

Temporal changes in incidence and prevalence of intellectual disability between two birth cohorts in Northern Finland

智力障碍

流行病学

Temporal changes in incidence and prevalence of intellectual disability between two birth cohorts in Northern Finland

Global Health Data Exchange ()60