Create issue ticket

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[lhsc.on.ca] 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[ncbi.nlm.nih.gov] At 14 months, his developmental milestones slowed and muscle hypotonia appeared.[ajnr.org]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Angelman Syndrome

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

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

    Delay in psychomotor development. Hypotonia (followed by spasticity) Visual loss. A macular cherry-red spot.[patient.info] 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[radiopaedia.org] […] in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase a is deficient, leading to the accumulation of[icd9data.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Mucolipidosis Type 4

    Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations.[en.wikipedia.org] 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[saudija.org] People with typical mucolipidosis type IV have delayed development of mental and motor skills (psychomotor delay).[ghr.nlm.nih.gov]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Homocystinuria

    It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia.[uniprot.org] 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.[medicalhomeportal.org] S-adenosyl homocystine hydrolase (SAHH) deficiency similarly does not have much of an overlap phenotype except for delayed psychomotor development.[clinicaladvisor.com]

    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).[diseaseinfosearch.org] Decreased muscle tone Low muscle tone [ more ] 0001290 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypoplasia of teeth 0000685 Intellectual disability[rarediseases.info.nih.gov] […] 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[rarediseases.info.nih.gov]

    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[mendelian.co] Malformations of motor centers in the brain cause reduced muscle strength(Hypotonia).[en.wikipedia.org] […] 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[en.wikipedia.org]

    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[ncbi.nlm.nih.gov] , resulting from exacerbated hemolysis) Chronic, non-immune hemolytic anemia High mean corpuscular hemoglobin concentration (MCHC) Presence of spherocytes in the peripheral[centogene.com] 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).[rarediseases.org]

  • Autosomal Recessive Spinocerebellar Ataxia 18

    SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability[malacards.org] 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[slideshare.net] SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability[genecards.org]

    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[mazornet.com] 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[uniprot.org] Initial plateauing then delayed psychomotor development infantile hypotonia, lethargy, poor head & neck control 2. Later 1.[web.peacelink.it]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia

Similar symptoms