Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence

Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence(来自ICD-11)

别称:

Toriello-Carey Syndrome

Corpus Callosum Agenesis-Blepharophimosis-Robin Sequence Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence, also known as toriello-carey syndrome, is related to corpus callosum agenesis of blepharophimosis robin type and corpus callosum, agenesis of. An important gene associated with Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence is DDX3X (DEAD-Box Helicase 3 X-Linked). Affiliated tissues include heart and brain, and related phenotypes are intellectual disability and short nose

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