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2,443 Possible Causes for Muscle Hypotonia, Non-Hemolytic Unconjugated Hyperbilirubinemia, Psychomotor Development Delayed

  • Leigh's Disease

    delay – a delayed development of intellect and motor ability Dystonia – uncontrollable muscle contractions causing repetitive twisting movements Epilepsy - The condition[] An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase[] At 14 months, his developmental milestones slowed and muscle hypotonia appeared.[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Angelman Syndrome

    General symptoms Delayed psychomotor development. Muscle laxity and balance problems. Severe mental retardation. Epilepsy.[] Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood.[] hypotonia, EEG abnormalities, and peculiar facies marked by a protruding jaw and tongue, occipital depression, and blue eyes.[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Tay-Sachs Disease

    Delay in psychomotor development. Hypotonia (followed by spasticity) Visual loss. A macular cherry-red spot.[] At 6 to 10 months limp and floppy muscles (hypotonia). decreased alertness and playfulness. difficulty sitting up or rolling over loss of motor skills. decreased hearing and[] […] in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase a is deficient, leading to the accumulation of[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Mucolipidosis Type 4

    Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations.[] Infants with I-cell disease are typically underweight at birth, with muscle hypotonia and coarse facial features, the full clinical picture of the disorder presenting between[] People with typical mucolipidosis type IV have delayed development of mental and motor skills (psychomotor delay).[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Homocystinuria

    It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia.[] hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility and increased risk of rupture of the globe.[] S-adenosyl homocystine hydrolase (SAHH) deficiency similarly does not have much of an overlap phenotype except for delayed psychomotor development.[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Acrocallosal Syndrome

    Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia).[] Decreased muscle tone Low muscle tone [ more ] 0001290 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypoplasia of teeth 0000685 Intellectual disability[] […] malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Cleft palate Cleft roof of mouth 0000175 Cleft upper lip Harelip 0000204 Frontal bossing 0002007 Generalized hypotonia[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Cerebellotrigeminal Dermal Dysplasia

    Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral[] Malformations of motor centers in the brain cause reduced muscle strength(Hypotonia).[] […] strength( Hypotonia ). [8] Eleven of fifteen people in one study showed moderate-to-severe intellectual disability. [6] In cases where it has been noted, head nodding is[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Early Infantile Epileptic Encephalopathy Type 6

    We report on a patient who developed, from 5 months of age, multiple seizure types, including myoclonic, associated with severe psychomotor delay, leading to the diagnosis[] , resulting from exacerbated hemolysis) Chronic, non-immune hemolytic anemia High mean corpuscular hemoglobin concentration (MCHC) Presence of spherocytes in the peripheral[] Incoordination (ataxia) and low muscle tone (hypotonia) are often apparent in the early years and remain a characteristic of the syndrome throughout life (Villas 2017).[]

  • Autosomal Recessive Spinocerebellar Ataxia 18

    SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability[] Hypotonia is a decrease in the normal resistance offered by muscles to passive manipulation When an affected limb is shaken flapping movements of the hands appear of wider[] SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Canavan Disease

    Initial Symptoms presented: • Delayed psychomotor development • Lethargy and poor head and neck control Later Symptoms Presented: • Movement Disorders • Seizures • Blindness[] The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly[] Initial plateauing then delayed psychomotor development infantile hypotonia, lethargy, poor head & neck control 2. Later 1.[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia

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