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GENATLAS PHENOTYPE
last update : 14-03-2017
Symbol CEMRM
Location 19p13.13
Name cataracts, epilepsy, mental retardation, microcephaly,
Corresponding gene NACC1
Main clinical features
  • neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements
  • profound developmental impairment such that ambulation and speech were absent or greatly impaired
  • brain imaging reveals delay in myelination and cerebral atrophy
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)
  • Recurrent De Novo c.892C>T (p.Arg298Trp) Missense Change in NACC1 (PMID: 28132692))