Details of Disease | DrugMAP

General Information of Disease (ID: DISXCWBJ)

Disease Name	Intellectual developmental disorder with severe speech and ambulation defects
Synonyms	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS; IDDSSAD; ACTL6B-related BAFopathy
Definition	Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene.
Disease Hierarchy	DISQTWXD: BAFopathy DISXCWBJ: Intellectual developmental disorder with severe speech and ambulation defects
Disease Identifiers	MONDO ID MONDO_0032770 UMLS CUI C5193115 OMIM ID 618470 MedGen ID 1682234

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTL6B	OTO7EJIS	Strong	Autosomal dominant	[1]
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References

1	The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory. Nat Neurosci. 2013 May;16(5):552-61. doi: 10.1038/nn.3359. Epub 2013 Mar 24.