/intellectual developmental disorder with severe speech and ambulation defects

intellectual developmental disorder with severe speech and ambulation defects

Rare Disease

MONDO:0032770

Also Known As

ACTL6B-related BAFopathyIDDSSADINTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS

Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene.

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

Coffin-Siris syndrome 1

MONDO:0007617

Baraitser-Winter syndrome 1

MONDO:0009470

intellectual disability-sparse hair-brachydactyly syndrome

MONDO:0011053

intellectual disability, autosomal dominant 14

MONDO:0013819

intellectual disability, autosomal dominant 15

MONDO:0013820

intellectual disability, autosomal dominant 16

MONDO:0013821