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2,791 Possible Causes for Non-Hemolytic Unconjugated Hyperbilirubinemia, Psychomotor Development Delayed, Skeletal Dysplasia

  • Crouzon Syndrome

    Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.com] American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal[emedicine.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • GM2-Gangliosidosis

    […] 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] Cherry-red macula, facial dysmorphia, hepatomegaly, exaggerated startle response to sounds, skeletal dysplasia, and vacuolated foamy lymphocytes that contain finely fibrillar[ncbi.nlm.nih.gov] Macular cherry-red spots, facial dysmorphism, hepatosplenomegaly, and generalized skeletal dysplasia are usually present in infantile cases.[ommbid.mhmedical.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Mucolipidosis

    Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations.[en.wikipedia.org] A radiologist with special expertise in skeletal dysplasias evaluated the radiographs.[ncbi.nlm.nih.gov] They all presented delays in psychomotor development, while their general health was reported as good.[ncbi.nlm.nih.gov]

    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] dysplasia, ocular cherry-red spots, occasionally hydrops fetalis, and early death (reviewed in [ 1 ]).[link.springer.com] People with typical mucolipidosis type IV have delayed development of mental and motor skills (psychomotor delay).[centogene.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Septo-Optic Dysplasia

    Neurological examination revealed axial laxity, psychomotor development delay, difficulties in keeping eyes fixed as well as rotary and horizontal nystagmus.[ncbi.nlm.nih.gov] His birth and postnatal growth history, developmental retardation, physical examination and skeletal radiograms suggested Sotos syndrome.[ncbi.nlm.nih.gov] We report a 6-month-old female patient who presented absent visual fixation since 4 months of age and delayed psychomotor development.[ncbi.nlm.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] , Lethal Larsen-Like Syndrome Lethal Short-Limb Skeletal Dysplasia, AL Gazali Type Lissencephaly, X-Linked, 2 Marden-Walker Syndrome Multiple ACYL-COA Dehydrogenase Deficiency[familydiagnosis.com] dysplasia.[docksci.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Acrocallosal Syndrome

    Lethal Type Hem Skeletal Dysplasia Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia Moth-Eaten Skeletal Dysplasia GRBGD 215140 Genetic Test Registry Greig Cephalopolysyndactyly[ukgtn.nhs.uk] 22q11.2 deletion syndrome Thanatophoric dysplasia type 2 Familial partial lipodystrophy Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia[checkrare.com] MPS IVB is characterized by skeletal changes, including short stature and skeletal dysplasia.[centogene.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Citrullinemia

    Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.com] American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal[emedicine.com]

    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: Skeletal Dysplasia
  • Argininosuccinic Aciduria

    Brendan Lee, MD, PhD Chief, Skeletal Dysplasia Clinic Associate Professor, Baylor College of Medicine Sandesh Chakravarthy Sreenath Nagamani, MBBS, MD Assistant Professor,[rarediseasesnetwork.org] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal[emedicine.medscape.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia

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