Opitz-Kaveggia Syndrome (OKS)

Opitz-Kaveggia Syndrome(来自ICD-11)

别称:

Fg Syndrome

Fg Syndrome Type 1

Keller Syndrome

Fg Syndrome 1

Fgs1

Oks

Fgs

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of the Corpus Callosum

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of Corpus Callosum

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Opitz-Kaveggia Syndrome, also known as fg syndrome, is related to fg syndrome 3 and fg syndrome 5, and has symptoms including constipation and seizures. An important gene associated with Opitz-Kaveggia Syndrome is MED12 (Mediator Complex Subunit 12), and among its related pathways/superpathways are Metabolism and Nervous system development. Affiliated tissues include testes and heart, and related phenotypes are macrocephaly and high palate

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