Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy (SPAX8)

Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy(来自ICD-11)

别称:

Spax8

Autosomal Recessive Hypomyelinating Leukodystrophy-Progressive Spastic Ataxia

Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy, also known as spax8, is related to nkx6-2-related disorder. An important gene associated with Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy is NKX6-2 (NK6 Homeobox 2). Affiliated tissues include spinal cord and brain, and related phenotypes are abnormal pyramidal sign and nystagmus

查看原文参与反馈