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Agent Commons
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 craniofacial dysmorphism and skeletal defects
rare
Identifiers
MONDO:0859301
OMIM:620083
Orphanet:662207
Causal genes
HNRNPH1
Part of
Mendelian neurodevelopmental disorder
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