Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features (NEDHILD)

Alias:

Intellectual Developmental Disorder, Autosomal Dominant 40, Formerly

Mental Retardation, Autosomal Dominant 40, Formerly

Neurodevelopmental Disorder with Hypotonia, Impaired Language, Dysmorphic Features

Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Fe

Intellectual Developmental Disorder, Autosomal Dominant 40

Intellectual Disability, Autosomal Dominant 40

Mrd40, Formerly

Nedhild

Mrd40

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features, also known as intellectual developmental disorder, autosomal dominant 40, formerly, is related to autosomal dominant intellectual developmental disorder 40. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Impaired Language, and Dysmorphic Features is CHAMP1 (Chromosome Alignment Maintaining Phosphoprotein 1). Affiliated tissues include brain and lung, and related phenotypes are intellectual disability and high palate

Related ID：

MALACARDS：NRD150

OMIM：616579

MESH：D008607