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intellectual disability, autosomal dominant 16

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.
Uniprot Description A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.
Mondo Term and Equivalent IDs
MONDO:0013821:  intellectual disability, autosomal dominant 16
UMLS:C3553249: