Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity (PEBAS)

Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity(来自ICD-11)

别称:

Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome

Pebas

Early-Onset Progressive Encephalopathy-Brain Atrophy-Spasticity Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity, is also known as early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity is TRAPPC12 (Trafficking Protein Particle Complex Subunit 12). Affiliated tissues include pons and brain, and related phenotypes are seizure and spasticity

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