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564 Possible Causes for Profound Mental Retardation

  • Meningoencephalitis

    Relapsing polychondritis (RP) is an uncommon immune-related disease with unknown causes. It is characterized by inflammation of cartilaginous or non-cartilaginous structures, such as the ears, nose, respiratory tract, eyes, and joints. Neurological involvement is rare in RP. We report a case of pleocytosis in a[…][]

  • Tuberous Sclerosis

    Clinical findings Range from benign hypopigmented skin macules, to profound mental retardation with intractable seizures and premature death due to disease-associated causes[]

  • Crouzon Syndrome

    Background Crouzon syndrome was described in 1912 as one of the varieties of craniofacial dysostosis caused by premature obliteration and ossification of two or more sutures, most often coronal and sagittal. [1, 2, 3, 4] Virchow introduced the term craniostenosis. [5] The type of obliterated sutures determines[…][]

  • Phenylketonuria

    This early detection and development of a PKU diet has saved many infants from the profound mental retardation that families like the Egelands suffered prior to Dr.[] mental retardation caused by defects that completely prevented the production of phenylalanine hydroxylase. 5 The frequency of PKU in the United States is currently considered[] Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation.[]

  • Down Syndrome

    J Hum Genet. 2018 May;63(5):669-672. doi: 10.1038/s10038-018-0412-4. Epub 2018 Feb 15. Author information 1 Department of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu University, Tokyo, Japan. 2 Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan.[…][]

  • Metabolic Disease

    Rare inherited metabolic diseases with neurological and gastrointestinal manifestations can be misdiagnosed as other diseases or remain as disorders with indeterminate etiologies. This study aims to provide evidence to recommend the utility of whole exome sequencing in clinical diagnosis of a rare inherited metabolic[…][]

  • Sjogren-Larsson Syndrome

    Abstract Sjögren-Larsson syndrome (SLS) is a rare autosomal recessively inherited disorder characterised by mental retardation, spasticity and ichthyosis.[] Abstract Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by mental retardation, spasticity and ichthyosis.[] SLS patients have a profound deficiency in fatty aldehyde dehydrogenase (FALDH) activity.[]

  • Canavan Disease

    Abstract The use of a rapid and sensitive assay for N-acetylaspartate (NAA) in urine or eluates from dried urine on filter paper to make a chemical diagnosis of Canavan disease (CD) is described. It involves a simplified urease pretreatment for sample preparation and gas chromatography-mass spectrometry (EI,[…][]

  • Neuronal Ceroid Lipofuscinosis 3

    retardation (EPMR; OMIM 600143 ; defective gene, CLN8 ), and adult NCL (Kufs disease; OMIM 204300 ; defective gene, CLN4 ) [reviewed in Ref. ( 1 )].[] […] gene is CLN5 ; and OMIM 601780, where the defective gene is CLN6 ), juvenile NCL (JNCL; OMIM 204200 ; defective gene, CLN3 ), a juvenile onset epilepsy with progressive mental[] Patients experience a progressive and profound loss of neurons in the central nervous system that generally is associated with increasingly severe epileptic seizures, visual[]

  • Donohue Syndrome

    All individuals affected with Donohue syndrome that survive past infancy have severe mental retardation and profound motor skill impairment.[]

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