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49 Possible Causes for 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] Others with atypical disease may not have symptoms until the second or third decades.[disorders.eyes.arizona.edu]

  • Autosomal Dominant Spastic Paraplegia Type 42

    onset, usually within the first or second decades of life.[jamanetwork.com] CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin[slc.bioparadigms.org] retardation, and hearing loss associated with decreased serum ceruloplasmin and copper.[genecards.org]

  • Pseudo-Zellweger Syndrome

    Similarly, the single patient with sterol carrier protein X (SCPX, now named SCP2) deficiency first experienced neurologic symptoms in the second decade of life ( Ferdinandusse[medlink.com] Migrational abnormalities are the most likely causes of the severe seizures and psychomotor retardation associated with many types of peroxisomal disorders.[repository.innermed.eu] Patients with lissencephaly have severe psychomotor retardation and intractable seizures.[neuropathology-web.org]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    Age of onset is in the second and third decades of life and rarely in the first. Recovery is usually complete and begins weeks to months after the onset of symptoms.[emedicine.medscape.com] retardation Oculoauriculofrontonasal syndrome Arts syndrome Erythropoietic protoporphyria Fuhrmann syndrome Mastocytosis cutaneous with short stature conductive hearing loss[checkrare.com] retardation TANC1 Ptosis, congenital ZFHX4 Pyridoxine-dependent epilepsy ALDH7A1 Pyruvate carboxylase deficiency PC Renpenning syndrome PQBP1 Rett syndrome preserved speech[centogene.com]

  • 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] 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] Psychomotor retardation appears after the age of 8 months with hypotonia, amaurosis, and megalencephaly. A cherry-red macular spot may be found but is not specific.[orpha.net]

  • 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] We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels.[ncbi.nlm.nih.gov] Central nervous system (CNS) abnormalities associated with mental retardation are often present.[ncbi.nlm.nih.gov]

  • 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 Characteristic Facies 2 AR 616801 Mast Syndrome AR 248900 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type XL 300534 Neuropathy, Hereditary Sensory[preventiongenetics.com] 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]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J

    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] retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion[se-atlas.de] retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile-onset X-linked spinal muscular atrophy Infantile-onset ascending hereditary spastic paralysis[se-atlas.de]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1D

    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] retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile systemic hyalinosis Infantile-onset X-linked spinal muscular atrophy Intellectual disability[se-atlas.de] retardation due to S-adenosylhomocysteine hydrolase deficiency Pterygium colli-intellectual disability-digital anomalies syndrome Ptosis-syndactyly-learning difficulties[se-atlas.de]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N

    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] retardation-progressive brain atrophy-basal ganglia disease syndrome Intermediate maple syrup urine disease Intermediate severe Salla disease Intermittent maple syrup urine[se-atlas.de] retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile systemic hyalinosis Infantile-onset X-linked spinal muscular atrophy Intellectual disability[se-atlas.de]

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