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GENATLAS PHENOTYPE

last update : 11-05-2022

Symbol	CDIDHH
Location	6q16.2
Name	cerebellar dysfunction, impaired intellectual development, with hypogonadotropic hypogonadism or not
Corresponding gene	PRDM13
Main clinical features	delayed motor development, ataxia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed sexual development also olivopontocerebellar hypoplasia syndrome isolated, with perinatal lethality, severe brainstem dysfunctions (e.g., feeding and respiratory difficulties, central apnea, bradycardia), together with persistent cerebellar hypoplasia, and global developmental delay (severity)
Genetic determination	autosomal recessive
Function/system disorder	neurology
	endocrinology
Type	disease

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