Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
MONDO:0013266Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.
Also known as: MEF2C Deficiency, MEF2C autosomal dominant non-syndromic intellectual disability, MEF2C haploinsufficiency syndrome (MCHS), MEF2C-related neurodevelopmental disorder, MEF2C-related syndrome, MRD20, autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C, intellectual disability, autosomal dominant 20
1 clinical trial for this condition and its sub-types.
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Disease
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Nervous system disorder
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Hereditary disease
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Neurodevelopmental disorder
(147)
Intellectual disability
(133)
Human disease
(14)
Hereditary neurological disease
(6)
Disease of genetic or genomic mechanism
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Autosomal dominant disease
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Autosomal dominant non-syndromic intellectual disability
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