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48 Possible Causes for Mental Retardation, Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation

  • Hallervorden-Spatz Syndrome

    There is an early onset classic form with symptoms of extrapyramidal disease beginning in the first decade of life and rapid progression to loss of ambulation in about 15[disorders.eyes.arizona.edu] Clinical presentations include dystonia, dysarthria, dementia, severe mental retardation and ataxia with rare features as rigidity, choreoathetosis, seizures, optic atrophy[medresearch.in] 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[doi.org]

  • Tay-Sachs Disease

    Late-onset Tay-Sachs disease (chronic form) is a rare variant phenotype with appearance of first symptoms during the second or third decade of life. 4 A juvenile form is also[doi.org] Tay—Sachs disease, an inherited autosomal recessive abnormality that occurs in infants usually of Ashkenazic Jewish parentage, is characterized by mental retardation and amaurosis[nejm.org] The patients was a 3-year-old boy with psychomotor retardation and attacked by seizures since 8 months of age. On funduscopy, the maculla presented a cherry-red spot.[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 42

    onset, usually within the first or second decades of life.[jamanetwork.com] retardation (MCLMR) [MIM: 152950 ] KIF1A Q12756 pleiotropic Mental retardation, autosomal dominant 9 (MRD9) [MIM: 614255 ] Spastic paraplegia 30, autosomal recessive (SPG30[sbg.bio.ic.ac.uk] CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin[slc.bioparadigms.org]

  • Hereditary Spastic Paraplegia

    Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] retardation and ichthyosis.[ncbi.nlm.nih.gov] Retardation and Characteristic Facies 2 AR 616801 Mast Syndrome AR 248900 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type XL 300534 Neuropathy, Hereditary Sensory[preventiongenetics.com]

  • Kearns-Sayre Syndrome

    Signs and symptoms [ edit ] Individuals with KSS present initially in a similar way to those with typical CPEO. Onset is in the first and second decades of life.[en.wikipedia.org] Department of Pediatrics and Psychiatry and the Mental Retardation Research Center, UCLA School of Medicine, Los Angeles, 90024, California Stephen D Cederbaum Newcastle and[doi.org] View Article PubMed Google Scholar Ramaekers VT, Hausler M, Opladen T, Heimann G, Blau N: Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated[doi.org]

  • Congenital Merosin-Positive Muscular Dystrophy

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] Here we report three cases in two families with merosin-positive congenital muscular dystrophy, mild mental retardation, bilateral cataracts and normal cranial magnetic resonance[ncbi.nlm.nih.gov] , microcephaly, delayed psychomotor development, generalized muscular wasting and weakness with mild facial involvement, calf pseudohypertrophy, joint contractures and areflexia[discovery.ucl.ac.uk]

  • Spastic Paraparesis-Deafness Syndrome

    Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] - - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM: 300534 ] P41229 non-pleiotropic VAR_022733 p.Leu731Phe Disease - - Mental retardation, X-linked[sbg.bio.ic.ac.uk] retardation with or without seizures AR 13 13 HSPD1 * Spastic paraplegia, Leukodystrophy, hypomyelinating AD/AR 5 5 IBA57 Multiple mitochondrial dysfunctions syndrome 3,[blueprintgenetics.com]

  • Spastic Paraplegia

    Clinical Correlations: Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later.[disorders.eyes.arizona.edu] SPG14 Gene Unknown 3q27-q28 Unknown Complicated: polineuropathy, mental retardation.[scielo.br] Retardation and Characteristic Facies 2 AR 616801 Mast Syndrome AR 248900 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type XL 300534 Neuropathy, Hereditary Sensory[preventiongenetics.com]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] […] dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome[informatics.jax.org] retardation-progressive brain atrophy-basal ganglia disease syndrome Intermediate maple syrup urine disease Intermediate severe Salla disease Intermittent maple syrup urine[se-atlas.de]

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