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61 Possible Causes for Hyperbiliverdinemia, Severe Hypotonia

  • Neuronal Ceroid Lipofuscinosis

    […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] Hypotonia-cerebral atrophy-hyperglycinemia syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis - congenital ichthyosis Hypotrichosis - lymphedema[csbg.cnb.csic.es] jaundice Greenberg dysplasia Greig cephalopolysyndactyly syndrome Greither disease Grisart-Destrée syndrome Griscelli disease type 1 Griscelli disease type 2 Griscelli disease[csbg.cnb.csic.es]

  • Transient Familial Neonatal Hyperbilirubinemia

    Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoportal sclerosis Hereditary North American Indian childhood cirrhosis Hereditary fructose intolerance Hyperbiliverdinemia[se-atlas.de] Other signs include poor feeding, prolonged jaundice, constipation, and hypotonia.[aneskey.com] The timing of clinical features will vary depending on the severity of hypothyroidism.[ojrd.biomedcentral.com]

  • Familial Recurrent Peripheral Facial Palsy

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] […] and intellectual disabilities-sensorineural deafness-dystonia syndrome Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Severe neonatal-onset[se-atlas.de] […] skin Granulosa cell cancer Granulosa cell malignant tumor Gravidic intrahepatic cholestasis Gray platelet syndrome Grayson-Wilbrandt corneal dystrophy Greenberg dysplasia Green[orpha.net]

  • Hereditary Hyperekplexia

    Joubert syndrome 17 Cardiac conduction defect, nonspecific Lethal multiple pterygium syndrome Non-small cell lung cancer Acroerythrokeratoderma Renal hypodysplasia/aplasia 2 Hyperbiliverdinemia[amp.pharm.mssm.edu] The patients have generalized dystonia, often associated with axial hypotonia and diffuse choreoathetoid movements.[findzebra.com] […] lactic acidosis, developmental delay and hypotonia.[amp.pharm.mssm.edu]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] Joint laxity Jaundice Severe global developmental delay Pes planus Abnormal heart morphology Visual loss Arthritis Patent ductus arteriosus Behavioral abnormality Atrial[mendelian.co] Children with I-cell disease typically have severe delays in the development of gross and fine motor skills, hearing loss, lack of muscle tone (hypotonia), and varying degrees[rarediseases.org]

  • Autosomal Recessive Primary Microcephaly Type 10

    […] to 21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1-SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] […] delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left[mendelian.co] Hyperbiliverdinemia, 614156 (3) BLVRB G:600941 . . BLZF1 G:608692 . . BMF G:606266 . . BMI1 G:164831 . . BMIQ1 P:606641 . . BMIQ2 P:606643 . . BMIQ3 P:607446 . .[usegalaxy.org]

  • Limb-Girdle Muscular Dystrophy Type 1H

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] In such cases, affected individuals have severe muscle weakness of both the arms and legs, loss of muscle tone (hypotonia), and delays in attaining motor milestones.[rarediseases.org] Myopia; glaucoma; juvenile cataracts; retinal dysplasia; severe mental retardation; LGMD2P DAG1 / Alpha dystroglycan Early childhood Very High Slow Contractures common Mental[now.aapmr.org]

  • 2-Aminoadipic 2-Oxoadipic Aciduria

    […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic.[uniprot.org] , developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder.[orpha.net]

  • Glycogen Storage Disease due to Muscle Beta-Enolase Deficiency

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular[doi.org] […] syndromes: Vary with age of onset Intrafamilial features: Homogeneous Infant onset: Multisystem; Severe Onset Age: 6 months Hypotonia Systemic Cardiac ( 90%) Cardiomegaly[neuromuscular.wustl.edu]

  • Waters-West Syndrome

    21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1- SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] muscular hypotonia Abnormality of the thorax Hypokinesia Facial diplegia Nemaline bodies Type 1 muscle fiber predominance Increased connective tissue Premature birth Axial[mendelian.co] Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral[mendelian.co]

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