椒盐发育倒退综合征
基因病名称(英)
Salt and pepper developmental regression syndrome
关键字(英)
Epilepsy,Mental retardation
别名(英)
AIES,Amish infantile epilepsy syndrome,Epilepsy syndrome infantile-onset symptomatic,GM3 synthase deficiency,Salt and pepper mental retardation syndrome
别名
AIES，阿米什婴儿癫痫综合征，癫痫综合征婴儿发作症状，GM3合酶缺乏症，盐和胡椒智力低下综合征
统计
reviewed:1; annotated:0
交叉引用
609056,C1836824,D004827
描述(英)
A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities.
描述
一种罕见的常染色体隐性遗传病，其特征是婴儿期出现严重、反复和难治性癫痫发作、发育迟缓、精神运动迟缓、发育停滞和皮质盲。在一些患者中观察到耳聋。受影响的个体在躯干、面部和四肢有斑块皮肤色素沉着不足或色素沉着过度。