Cortical Dysplasia, Complex, with Other Brain Malformations 13 (CDCBM13)

Cortical Dysplasia, Complex, with Other Brain Malformations 13(来自ICD-11)

别称:

Cdcbm13

Mental Retardation, Autosomal Dominant 13, with Neuronal Migration Defects, Formerly

Intellectual Developmental Disorder, Autosomal Dominant 13, Formerly

Intellectual Developmental Disorder, Autosomal Dominant 13

Mental Retardation, Autosomal Dominant 13, Formerly

Mental Retardation, Autosomal Dominant, Type 13

Intellectual Disability, Autosomal Dominant 13

Mrd13, Formerly

Mrd13

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cortical Dysplasia, Complex, with Other Brain Malformations 13, also known as cdcbm13, is related to autosomal dominant intellectual developmental disorder 13 and spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant. An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 13 is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1). Affiliated tissues include brain and cortex, and related phenotypes are hypotonia and global developmental delay

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