Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:[Amaurosis congenita (Leber) with severe genital developmental delay]. 279 36