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GENATLAS PHENOTYPE

last update : 26-01-2022

Symbol	MRD7
Location	21q22.13
Name	mental retardation, autosomal dominant 7
Corresponding gene	DYRK1A
Main clinical features	primary microcephaly (-3 SD), severe mental retardation without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip mental retardation, microcephaly, epilepsy, and language delay are the more specific features in any cases, associated with congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) (PMID: 31263215))
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
Type	disease

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