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3,664 Possible Causes for Non-Hemolytic Unconjugated Hyperbilirubinemia, Psychomotor Development Delayed, Splenomegaly

  • Brandt Syndrome

    Icterus intermittens juvenilis; Low-grade chronic hyperbilirubinemia; Familial non-hemolytic-non-obstructive jaundice; Constitutional liver dysfunction; Unconjugated benign[medlineplus.gov] […] more ] 0003593 Irritability Irritable 0000737 Lethargy 0001254 Low alkaline phosphatase Decreased serum alkaline phosphatase 0003282 Recurrent candida infections 0005401 Splenomegaly[rarediseases.info.nih.gov]

  • Farber Disease

    Abnormality of head or neck Cherry red spot of the macula Abnormality of metabolism/homeostasis Joint swelling Lipogranulomatosis Abnormality of the abdomen Hepatomegaly Splenomegaly[familydiagnosis.com] […] fatalities and these might include: Acute breathing difficulties, resulting in respiratory failure Swollen liver (congenital hepatomegaly) and swollen spleen (congenital splenomegaly[dovemed.com] […] delay 0001263 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Pulmonary fibrosis 0002206 Splenomegaly[rarediseases.info.nih.gov]

    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]

  • Mucolipidosis

    Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations.[en.wikipedia.org] […] conditions 'stand alone', 'walk without support' and 'speak single words' were impaired; however, the frequency of 'heart murmur', 'inguinal hernia' and 'hepatomegaly and/or splenomegaly[ncbi.nlm.nih.gov] Disturbance - see also Disease Fabry's disease (angiokeratoma corporis diffusum) 272.7 Gaucher's disease (adult) (cerebroside lipidosis) (infantile) 272.7 hepatomegaly 272.7 splenomegaly[icd9data.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • 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] Tests reveal abnormal enlargement of the liver ( hepatomegaly ) and spleen ( splenomegaly ) and extreme abdominal swelling.[en.wikipedia.org] People with typical mucolipidosis type IV have delayed development of mental and motor skills (psychomotor delay).[centogene.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Generalized Gangliosidosis

    *Speech delay then speech disturbance and speech loss ( Type I - Infantile Types usually don't develop speech at all ) *profound intellectual disability *Severe psychomotor[gm1gangliosidosis.blogspot.com] […] infantile GM1 (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver enlargement ( hepatomegaly ), spleen enlargement ( splenomegaly[en.wikipedia.org] As I followed her over two subsequent outpatient visits, the edema waxed and waned but she definitely began to develop hepatomegaly without splenomegaly, and I felt her facial[healio.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Congenital Disorder of Glycosylation Type 1E

    ALG3-CDG – Affected individuals develop delays in attaining milestones that require the coordination of muscular and mental activity (psychomotor retardation), a defect of[rarediseases.org] […] breathing [ more ] 0002098 Retinopathy Noninflammatory retina disease 0000488 Short palm 0004279 Small hand Disproportionately small hands 0200055 Smooth philtrum 0000319 Splenomegaly[rarediseases.info.nih.gov] This disorder is characterized by yellowing of the skin and whites of the eyes (jaundice), an abnormally large spleen (splenomegaly), gallstones (cholelithiasis), premature[rarediseases.org]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Thalassemia

    psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).[ncbi.nlm.nih.gov] Approach to the adult patient with splenomegaly and other splenic disorders. . Accessed June 14, 2016. Splenomegaly. Merck Manual Professional Version. .[mayoclinic.org] KEYWORDS: Anemia; genotype-phenotype; hemolysis; relationship; splenomegaly; β-thalassemia intermedia (β-TI)[ncbi.nlm.nih.gov]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Niemann-Pick Disease Type B

    NPC2: extensive pulmonary infiltration with foam cells, delayed psychomotor development and respiratory failure, with death in early childhood.[patient.info] Most patients initially presented with splenomegaly (78%) or hepatomegaly (73%).[ncbi.nlm.nih.gov] RESULTS: Common disease-related morbidities included splenomegaly (96.6%), hepatomegaly (91.4%), liver dysfunction (82.6%), and pulmonary disease (75.0%).[ncbi.nlm.nih.gov]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Niemann-Pick Disease

    NPC2: extensive pulmonary infiltration with foam cells, delayed psychomotor development and respiratory failure, with death in early childhood.[patient.info] RESULTS: Common disease-related morbidities included splenomegaly (96.6%), hepatomegaly (91.4%), liver dysfunction (82.6%), and pulmonary disease (75.0%).[ncbi.nlm.nih.gov] Hepatosplenomegaly, was detected at 6 weeks of age; the splenomegaly resolved following CBSCT. Recovery was complicated by graft-versus-host disease.[ncbi.nlm.nih.gov]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia

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