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1,930 Possible Causes for Progressive Mental Retardation

  • Mental Retardation

    Brachydactyly mental retardation syndrome (BDMR) is an autosomal dominant disorder, caused by haploinsufficiency of histone deacetylase 4 (HDAC4), also on chromosome 2q37.[] retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech.[] One of several phenotypes associated with different mutations of the fragile X mental retardation 1 gene (FMR1), FXTAS involves progressive action tremor, gait ataxia, and[]

  • Hallervorden-Spatz Syndrome

    It is characterized by progressive Parkinson-like rigidity, athetotic movements, and progressive mental and emotional retardation.[] At about 1 1/2 years of age the patients with Hallerworden‐Spatz disease developed clinical signs including progressive extrapyramidal motor disorder and mental retardation[] Case 3: A 11-year-old girl presented with progressively increasing mental retardation and extra-pyramidal symptoms, since the age of four years.[]

  • Fucosidosis

    Historical note and terminology Fucosidosis is a progressive mental retardation syndrome involving lysosomal storage that was first described by Durand in 1966 ( Durand et[] […] multiplex, and mental retardation.[] As the disease progresses, more serious and ever worsening symptoms develop, including seizures, spastic quadriplegia, progressive mental retardation and chronic lung infections[]

  • Niemann-Pick Disease

    retardation.[] Some clinical (but not biochemical) manifestations may disappear later in life Rapidly progressing disease of young children, characterized histologically by abnormal fibroblasts[] […] accumulation of apolipoprotein b-like protein in intestinal cells, deficient blood apolipoproteins, and avitaminosis e manifested by malnutrition, steatorrhea, and growth and mental[]

  • Pelizaeus-Merzbacher Disease

    retardation is not severe, some patients show dementia or personality disorders, the disease is progressive rather than static in some, and several females show signs of[] […] and both the classical and connatal forms of PMD in that it is relatively mild in form, onset is delayed beyond age 2 years, nystagmus is absent, tremors are prominent, mental[]

  • Globoid Cell Leukodystrophy

    This metabolic disorder is characterized by progressive neurological dysfunction such as mental retardation, paralysis, blindness, deafness and paralysis of certain facial[]

  • Ataxia Telangiectasia

    In contrast, she showed symptoms not generally related to AT, including microcephaly, profound motor and mental retardation, small hands and feet, severely and progressively[] Diagnosis of AT is questionable when accompanied by severe mental retardation, seizures, non-progressive ataxia, or microcephaly.[]

  • Tuberous Sclerosis

    […] epilepsy, and mental retardation.[] While some people with TSC are cognitively normal and experience minor organ involvement, others are more severely affected with multi-system progressive tumors, intractable[]

  • Phenylketonuria

    Phenylketonuria (PKU) is characterized by phenylalanine accumulation and progressive mental retardation caused by an unknown mechanism.[] If untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products.[] Følling practiced, Borgny and Harry Egeland had two children, ages four and six, with progressive mental retardation in 1934.[]

  • Classical Phenylketonuria

    Phenylketonuria (PKU) is a treatable autosomal recessive condition which, without treatment, causes progressive mental retardation.[] Untreated individuals have very fair hair, eczema, a mousy odor of the urine and skin, and progressive mental retardation.[] […] symptoms of cognitive dysfunction, including mental retardation, epileptic seizures, and abnormal brain activity.[]

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