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978 Possible Causes for Caused by Mutation in the Surfeit 1 Gene, 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] […] groups have been affected, a common mutation has been found in Faroese people (an ethnic group with a population of about 25 000 living Scandinavia) Symptoms Neurological: Psychomotor[lhsc.on.ca]

    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] Over the years, he developed refractory epilepsy and was implanted with a vagus nerve stimulator at the age of 19.[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Surfeit 1 Gene
  • Brandt Syndrome

    Icterus intermittens juvenilis; Low-grade chronic hyperbilirubinemia; Familial non-hemolytic-non-obstructive jaundice; Constitutional liver dysfunction; Unconjugated benign[medlineplus.gov]

    Missing: Caused by Mutation in the Surfeit 1 Gene
  • 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]

    Missing: Caused by Mutation in the Surfeit 1 Gene Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Gilbert Syndrome

    Constitutional liver dysfunction Familial non-hemolytic non-obstructive jaundice Icterus intermittens juvenilis Low-grade chronic hyperbilirubinemia Unconjugated benign bilirubinemia[en.wikipedia.org] Tagged as: constitutional liver dysfunction, familial benign unconjugated hyperbilirubinaemia, familial non-hemolytic non-obstructive jaundice, Gilbert–Meulengracht syndrome[highrisklifeinsuranceagency.com] Icterus intermittens juvenilis; Low-grade chronic hyperbilirubinemia; Familial non-hemolytic-non-obstructive jaundice; Constitutional liver dysfunction; Unconjugated benign[nlm.nih.gov]

    Missing: Caused by Mutation in the Surfeit 1 Gene Psychomotor Development Delayed
  • Mucolipidosis Type 1

    Mucolipidosis IV (ML4) is a neurodegenerative condition that is characterised by significant psychomotor and cognitive development delay, visual impairment, and poor muscle[jnetics.org] People with typical mucolipidosis type IV have delayed development of mental and motor skills (psychomotor delay).[centogene.com] Case 2 also developed cerebellar syndrome with mild psychomotor delay.[healio.com]

    Missing: Caused by Mutation in the Surfeit 1 Gene 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] Initial plateauing then delayed psychomotor development infantile hypotonia, lethargy, poor head & neck control 2. Later 1.[web.peacelink.it] All three affected individuals exhibited continuous psychomotor development without any regression.[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Surfeit 1 Gene Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Angelman Syndrome

    General symptoms Delayed psychomotor development. Muscle laxity and balance problems. Severe mental retardation. Epilepsy.[mun-h-center.se]

    Missing: Caused by Mutation in the Surfeit 1 Gene Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Farber Disease

    Abstract Farber disease is a rare lysosomal storage disorder caused by a deficiency of the acid ceramidase enzyme, leading to the accumulation of ceramide in various tissues. It usually manifests within a few months after birth with a unique triad of symptoms, including painful and progressive deformed joints,[…][doi.org]

    Missing: Caused by Mutation in the Surfeit 1 Gene Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Crouzon Syndrome

    - A dictionary of medical eponyms Related people Alfred Vogt Eugène Charles Apert Louis Edouard Octave Crouzon Rudolf Ludwig Karl Virchow A rare form of Carpenter's syndrome (acrocephalopoysyndactyly), this congenital syndrome combines features of the Apert syndrome with those of the Crouzon syndrome.[…][whonamedit.com]

    Missing: Caused by Mutation in the Surfeit 1 Gene Non-Hemolytic Unconjugated Hyperbilirubinemia

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