[Amaurosis congenita (Leber) with severe genital developmental delay].
Report of a boy aged 16 years with LEBER's congenital amaurosis, which is associated with typical nystagmus and further severe general retardation, including ossification, imbecillity, acrocephaly, dysraphia and cardiomyopathia.
Fehlow
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D000293:Adolescent; D002657:Child Development; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005808:Genes, Recessive; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000235:genetics*
Amaurosis congenita (LEBER) mit schwerer allgemeiner Entwicklungsverzögerung.