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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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Mendelian neurodevelopmental disorder
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
Identifiers
MONDO:0859347
OMIM:620191
Causal genes
PGM2L1
Part of
Mendelian neurodevelopmental disorder
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