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GENATLAS PHENOTYPE

last update : 28-04-2021

Symbol	HIDDA
Location	11q12.2
Name	hypotonia, mild to moderate intellectual disability, digital anomalies
Corresponding gene	DDB1
Main clinical features	mild to moderate intellectual disability, and similar facies, including horizontal or slightly bowed eyebrows, deep-set eyes, full cheeks, a short nose, and large, fleshy and forward-facing earlobes, maxillary hypoplasia, lateral extension of the palpebral fissures, and straight eyebrows digital anomalies, including brachydactyly and syndactyly
Genetic determination	not applicable
Function/system disorder	mental retardation
	osteo-articular
Type	disease

Remark(s)

. affected individuals have altered DDB1 function resulting in abnormal DNA damage signatures and histone methylation following UV-induced DNA damage (PMID: 33743206))