Neurodevelopmental Disorder with Spasticity, Hypomyelinating Leukodystrophy, and Brain Abnormalities (NEDSPLB)

Neurodevelopmental Disorder with Spasticity, Hypomyelinating Leukodystrophy, and Brain Abnormalities(来自ICD-11)

别称:

Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis

Nedsplb

Pmgycha

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neurodevelopmental Disorder with Spasticity, Hypomyelinating Leukodystrophy, and Brain Abnormalities, is also known as polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis. An important gene associated with Neurodevelopmental Disorder with Spasticity, Hypomyelinating Leukodystrophy, and Brain Abnormalities is PI4KA (Phosphatidylinositol 4-Kinase Alpha). Affiliated tissues include brain and eye, and related phenotypes are micrognathia and talipes equinovarus

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