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1,867 Possible Causes for Progressive Mental Retardation

  • Spondyloepimetaphyseal Dysplasia Type Bieganski

    The main clinical features were short stature, abnormal face, skeletal deformities, and progressive mental retardation.[] mental retardation small corpus callosum widened subarachnoid spaces Growth Height: short stature Skeletal Skull: wormian bones Skeletal Hands: brachydactyly large, broad[] […] proximal tibiae) peg-like central prominence of distal tibial metaphyses Head And Neck Ears: low-set ears Neurologic Central Nervous System: seizures delayed myelination progressive[]

  • 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[] As the disease progresses, more serious and ever worsening symptoms develop, including seizures, spastic quadriplegia, progressive mental retardation and chronic lung infections[] A 14-year-old girl is presented, with recurrent infections, progressive dystonic movement disorder and mental retardation with onset in early childhood.[]

  • Phenylketonuria

    If untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products.[] retardation.[] If untreated, the interrupted metabolism of dietary phenylalanine results in accumulation of the amino acid in body fluids with resultant, progressive, irreversible mental[]

  • 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[]

  • Hallervorden-Spatz Syndrome

    Described features include 9 : rigidity dysarthria dystonia retinitis pigmentosa progressive mental retardation cognitive impairment spasticity tremors Reflects areas of iron[] It is characterized by progressive Parkinson-like rigidity, athetotic movements, and progressive mental and emotional retardation.[] Case 3: A 11-year-old girl presented with progressively increasing mental retardation and extra-pyramidal symptoms, since the age of four years.[]

  • Cockayne Syndrome

    Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, microcephaly, mental retardation[] […] neurologic deterioration; mental retardation; intracranial calcifications Ear Nose Throat Sensorineural deafness Eyes: "Salt and pepper" retinal pigment, miotic pupils may[] There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation.[]

  • 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[]

  • Mental Retardation

    retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech.[] Brachydactyly mental retardation syndrome (BDMR) is an autosomal dominant disorder, caused by haploinsufficiency of histone deacetylase 4 (HDAC4), also on chromosome 2q37.[] 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[]

  • 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.[]

  • Richards-Rundle Syndrome

    , absent deep tendon reflexes, mental retardation, failure to develop secondary sexual characteristics, and ketoaciduria; autosomal recessive inheritance.[] progressive spasticity, X-linked , Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance , Metachromatic Leukodystrophy , Miller Fisher[] retardation (oculoacousticocerebral degeneration) hearing loss narrowing of retinal vessels mental retardation muscle atrophy a microvasculopathy that causes characteristic[]

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