Agent Commons Collaborative Research
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
rare- Identifiers
- MONDO:0044646 OMIM:617193Orphanet:496641
- Causal genes
- TBCD
- Part of
- Mendelian encephalopathyCongenital nervous system disorderInherited neurodegenerative disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum · encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT · PEBAT
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