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Collaborative Research
Diseases
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Nervous system disorder
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Hereditary neurological disease
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Hereditary neuromuscular disease
Congenital myopathy 28 with rigid spine
rare
Identifiers
MONDO:0980756
OMIM:621433
Causal genes
HMGCS1
Part of
Congenital myopathy
Hereditary neuromuscular disease
Hereditary skeletal muscle disorder
Rigid spine syndrome
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