Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies (IDDFSDA)

Alias:

Iddfsda

Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies, is also known as iddfsda. An important gene associated with Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies is OTUD6B (OTU Deubiquitinase 6B). Affiliated tissues include heart and brain, and related phenotypes are seizure and intellectual disability, severe

Related ID：

MALACARDS：INT312

OMIM：617452

MESH：D065886