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Diseases
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Metabolic disease
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Developmental anomaly of metabolic origin
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
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Identifiers
MONDO:0971138
Orphanet:675782
Part of
Developmental anomaly of metabolic origin
Disorder of lysosomal-related organelles
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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