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GENATLAS PHENOTYPE

last update : 22-06-2022

Symbol	ICRD
Location	22q13.2
Name	Infantile Cerebellar-Retinal Degeneration
Corresponding gene	ACO2
Main clinical features	truncal hypotonia and athetosis, seizure disorder, and ophthalmologic abnormalities failure to acquire developmental milestones and culminated in profound psychomotor retardation and progressive visual loss, including optic nerve and retinal atrophy serial brain MRI displayed progressive, prominent cerebellar atrophy accompanied by thinning of the corpus callosum, dysmyelination, and frontal and temporal cortical atrophy
Genetic determination	autosomal recessive
Related entries	also hereditary spastic paraplegia complicated by intellectual disability and microcephaly (PMID: 29577077)
Function/system disorder	neurology
	eye
Type	disease

Remark(s)