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5,168 Possible Causes for Mental Retardation, Non-Hemolytic Unconjugated Hyperbilirubinemia, Psychomotor Development Delayed

  • 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] The former patient showed moderate mental retardation; however, seizure was controlled to almost one incident a year by levetiracetam and topiramate.[ncbi.nlm.nih.gov]

  • Alexander Disease

    The main characteristics of infantile and juvenile AxD include delayed psychomotor development or mental retardation, convulsions, macrocephaly, and predominant cerebral white[ncbi.nlm.nih.gov] The patient initially presented at 9 months of age, with profound mental retardation and a history of seizures.[ncbi.nlm.nih.gov] Diffuse white matter involvement with frontal predominance is typical of infantile AD that is clinically characterized by progressive motor and mental retardation, seizures[ncbi.nlm.nih.gov]

    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] retardation phenotype.[ncbi.nlm.nih.gov] Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy.[ncbi.nlm.nih.gov]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Brandt Syndrome

    Icterus intermittens juvenilis; Low-grade chronic hyperbilirubinemia; Familial non-hemolytic-non-obstructive jaundice; Constitutional liver dysfunction; Unconjugated benign[medlineplus.gov] Mental hospitals, except for the mentally retarded, Psychiatric hospitals.[webhealthnetwork.com] Long-term copper deficiency results in neurologic deficits, such as mental retardation. What is the Evidence?[dermatologyadvisor.com]

  • Crouzon Syndrome

    retardation.[ncbi.nlm.nih.gov] A sporadic case of Crouzon Syndrome without mental retardation is described.[ncbi.nlm.nih.gov] The 13-year-old Japanese boy described here also had dyspnea, facial palsy, sensorineural hearing loss, and skeletal and mental retardation.[ncbi.nlm.nih.gov]

    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] 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] […] 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
  • Homocystinuria

    It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia.[uniprot.org] Classic homocystinuria presents initially with ectopia lentis, mental retardation, seizures and marfanoid features.[symptoma.com] S-adenosyl homocystine hydrolase (SAHH) deficiency similarly does not have much of an overlap phenotype except for delayed psychomotor development.[cancertherapyadvisor.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Acrocallosal Syndrome

    retardation.[ncbi.nlm.nih.gov] Jump to search syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental[wikidata.org] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intracranial cystic lesion 0010576 Long philtrum 0000343 Microretrognathia[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] There have been 19 cases documented to date and we report on two additional male patients, 1 and 6 years of age, with typical features, mild mental retardation and dyspraxia[ncbi.nlm.nih.gov] Research of Gomez Lopez Hernandez Syndrome has been linked to Neurocutaneous Syndromes, Dysplasia, Congenital Absence, Apraxias, Mild Mental Retardation.[novusbio.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Hartnup Disease

    Their symptoms may include skin rashes upon exposure to sunlight, mental retardation, short stature, fainting, and headaches.[pfond.cmmt.ubc.ca] Mental retardation and delayed motor development, as well as growth retardation, have been seen in rare cases.[symptoma.com] Some affected individuals have also been mentally retarded or mentally subnormal to a mild degree.[ommbid.mhmedical.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia

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