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GENATLAS PHENOTYPE

last update : 08-10-2019

Symbol	IDDF
Location	11q23.3
Name	intellectual disability, and dysmorphic features
Corresponding gene	DDX6
Main clinical features	intellectual disability, developmental delay, and similar dysmorphic features including telecanthus, epicanthus, arched eyebrows, and low-set ears mild to moderate cardiac anomalies, hypotonia , gait instability, and hand, foot, and genitourinary abnormalities
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
Type	disease

Remark(s)

. de novo missense variants identified in affected individuals are located in exon 11 of DDX6 (PMID: 31422817))