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

Alias:

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

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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

Related ID：

MALACARDS：ENC059

OMIM：617669

MESH：D001927