Cortical Dysplasia, Complex, with Other Brain Malformations 15 (CDCBM15)

Alias:

Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures

Pamddfs

Cdcbm15

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cortical Dysplasia, Complex, with Other Brain Malformations 15, is also known as pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures. An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 15 is TUBGCP2 (Tubulin Gamma Complex Component 2). Affiliated tissues include brain, and related phenotypes are protruding ear and pachygyria

Related ID：

MALACARDS：CRT098

OMIM：618737

MESH：D008607