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2,415 Possible Causes for Family History of 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[] Others with atypical disease may not have symptoms until the second or third decades.[]

  • Pelizaeus-Merzbacher Disease

    Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with severe psychomotor retardation and neurological symptoms due to an inborn abnormality of proteolipid[] The typical clinical manifestations of PMD include psychomotor retardation, nystagmus, abnormal muscle tone, seizures, and cognitive impairment.[] Diffuse hypotonia, nystagmus, psychomotor retardation, visual and hearing impairment have been observed in the patient since the age of 6 weeks.[]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Diffuse Cerebral Sclerosis of Schilder

    retardation, involuntary movements, ataxia, and death in the second decade of life.[] […] pelizaeus-medrzbacher disease with normal proteolipid protein in its classical form, the disease has an onset in the first three months of life with nystagmus followed by slowly progressive psychomotor[]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Tuberous Sclerosis

    Everolimus is an inhibitor of the mammalian target of rapamycin (mTOR) that has been approved by the US Food and Drug Administration for the treatment of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC). Retinal hamartomas, which are one of the major diagnostic[…][]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Tay-Sachs Disease

    retardation.[] 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[] 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.[]

  • Oculocerebrorenal Syndrome

    A directed interview, focusing on a maternal family history of male relatives with unexplained mental retardation, early institutionalization, or congenital rubella, is appropriate[] Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence.[] - A dictionary of medical eponyms Related people Charles Upton Lowe Oculocerebrorenal dystrophy syndrome characterised by severe psychomotor retardation with growth and mental[]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Leigh's Disease

    retardation.[] A 4 1/2-month-old girl suffered from psychomotor retardation, generalized hypotonia, poor feeding, hyperreflexia, nystagmus, optical atrophy and choreoathetosis from the age[] A two-and-a-half-year-old male child presented with recurrent attacks of intractable vomiting, psychomotor retardation since 14 months of age.[]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Allan-Herndon-Dudley Syndrome

    CH is one of the most common treatable causes of mental retardation. Inverse relationship between IQ and age of diagnosis.[] However, the brain is hypothyroid, causing incapacitating psychomotor retardation.[] These patients presented with psychomotor retardation and characteristic thyroid function abnormalities, such as elevated T3 and low T4 levels.[]

    Missing: Onset of Symptoms in First or Second Decade of Life
  • Autosomal Dominant Spastic Paraplegia Type 42

    […] or breathing. [2] Diagnosis Initial diagnosis of HSPs relies upon family history, the presence or absence of additional signs and the exclusion of other nongenetic causes[] onset, usually within the first or second decades of life.[] CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin[]

  • Baraitser-Winter Syndrome 1

    A 7-year-old girl of consanguineous parents was sent to our department for short stature with mild mental retardation. Her family history was free of similar disorders.[] The overall risk of psychomotor retardation is high, but 34 of our 113 patients had an IQ greater than 70.[] BRWS cerebro-frontofacial syndrome, type 3 Fryns-Aftimos syndrome iris coloboma with ptosis, hypertelorism, and mental retardation Baraitser M, Winter RM.[]

    Missing: Onset of Symptoms in First or Second Decade of Life

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