title: [Amaurosis congenita (Leber) with severe genital developmental delay].
abstract: 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.
authors: P
authors: P
authors: Fehlow
mesh_terms: 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*
vernacular_title: Amaurosis congenita (LEBER) mit schwerer allgemeiner Entwicklungsverzögerung.