Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The paper presents the observations on a female patient with congenital cataract, oligophrenia, unsteady gait, low muscular strength, diminished osteotendinous reflexes. The patient has an under normally developed intellect, dysarthria, epileptic crises. Her speaking practice is bad, she also has tropical disturbances, genu valgum, shortening of the fingers of the right hand, kyphoscoliosis. The clinical signs integrate the observations with the Marinescu-Sjogren syndrome. The case is interesting because of the association of the epilepsy with this syndrome.
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PMID:[Congenital cataract associated with mental retardation and epilepsy]. 142 Jan 33