Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum (PEBAT)

Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum(来自ICD-11)

别称:

Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome

Pebat

Early Onset Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum

Early-Onset Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum, also known as early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, is related to corneal dystrophy, thiel-behnke type and tubulinopathy. An important gene associated with Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum is TBCD (Tubulin Folding Cofactor D). Affiliated tissues include brain and eye, and related phenotypes are spasticity and muscle weakness

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