Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome
ORPHA:697067疾病暂无中文名
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by infancy/early childhood-onset severe global developmental delay (manifests mostly by delayed sitting and walking/inability to walk), severe intellectual disability with minimal or no speech, pyramidal signs (including lower limb spasticity, hyperreflexia, spastic gait and feet contractures), short stature, microcephaly and dysmorphic facial features (including a long face, strabismus, short philtrum, open mouth, full lips or everted lower lip and teeth abnormalities). Seizures and dystonic/dyskinetic movements may also be present in some patients.
别名
BCAS3-related neurodevelopmental disorder、Hengel-Maroofian-Schols syndrome
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期、婴儿期
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| BCAS3 | BCAS3 microtubule associated cell migration factor | Disease-causing germline mutation(s) in |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）