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GENATLAS PHENOTYPE

last update : 15-09-2020

Symbol	DDNFA
Location	16q21
Name	developmental delay, neurological and facial abnormalities
Corresponding gene	CNOT1
Main clinical features	intellectual disability of varying degree, development delay, speech delay, motor delay, and hypotonia, facial dysmorphism also abnormal growth, behavioral problems, abnormalities of the brain and skeletal, and muscle and soft tissue abnormalities
Genetic determination	not applicable
Function/system disorder	mental retardation
	neuromuscular
	osteo-articular
Type	disease

Remark(s)

de novo variants in CNOT1 impact its normal function in a more complex manner, involving either transcript- and/or tissue-dependent hypomorphic or neomorphic alleles (PMID: 32553196))