Create issue ticket

53 Possible Causes for Hyperbiliverdinemia, Muscle Spasticity

  • Neuronal Ceroid Lipofuscinosis

    […] paraparesis - distal muscle wasting CHIME syndrome CHM Cholelithiasis with ABCB4 gene mutation Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency Cholesterol[csbg.cnb.csic.es] […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] […] spinocerebellar ataxia Childhood-onset hypophosphatasia Childhood-onset nemaline myopathy Childhood-onset phosphoethanolaminuria Childhood-onset Rathburn disease Childhood-onset spastic[csbg.cnb.csic.es]

  • Transient Familial Neonatal Hyperbilirubinemia

    Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS.[fpnotebook.com] Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoportal sclerosis Hereditary North American Indian childhood cirrhosis Hereditary fructose intolerance Hyperbiliverdinemia[se-atlas.de] (Menkes, Textbook of Child Neurology, 5th ed, p613) Definition (CSP) brain disorder associated with high levels of bilrubin; clinical features include athetosis, muscle spasticity[fpnotebook.com]

  • Familial Recurrent Peripheral Facial Palsy

    In central paralysis the tone of the muscles is increased, causing spasticity.[medical-dictionary.thefreedictionary.com] jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] […] epilepsy as a major feature Congenital disorder of glycosylation with neurological involvement Congenital fiber-type disproportion myopathy Congenital fibrosis of extraocular muscles[se-atlas.de]

  • Hereditary Hyperekplexia

    Apraxia (Medical Encyclopedia) Hand or foot spasms (Medical Encyclopedia) Muscle atrophy (Medical Encyclopedia) Muscle function loss (Medical Encyclopedia) Muscle twitching[icdlist.com] 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] Paraplegia Cardiomyopathy and Skeletal Muscle Disease Epilepsy Seizures and Developmental Brain Abnormalities Epilepsy Alternating Hemiplegia of Childhood Baraitser-Winter[genomicinterpretation.org]

  • Autosomal Recessive Primary Microcephaly Type 10

    Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS.[ncbi.nlm.nih.gov] […] to 21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1-SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] 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]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    […] laxa, autosomal dominant PMM2-CDG (CDG-Ia) Hereditary paraganglioma-pheochromocytoma Hereditary congenital facial paresis Crisponi syndrome Abetalipoproteinemia Rippling muscle[checkrare.com] jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] […] spasms Hirschsprung disease polydactyly heart disease Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis Refsum disease Spastic[checkrare.com]

  • Limb-Girdle Muscular Dystrophy Type 1H

    Hearing impairment Global developmental delay Strabismus Short stature Myofibrillar myopathy Late-onset distal muscle weakness Hepatomegaly Spasticity Muscle fiber splitting[mendelian.co] jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] […] cramps EMG abnormality Decreased LDL cholesterol concentration Esophagitis Focal seizures Esotropia Apraxia Athetosis Lower limb spasticity Heterogeneous Truncal ataxia Amblyopia[mendelian.co]

  • Glycogen Storage Disease due to Muscle Beta-Enolase Deficiency

    They may also have other neurological problems, such as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and[smpdb.ca] jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] […] weakness Proximal Face Slowly progressive Tendon reflexes Early: Reduced Late: Increased with Spasticity Peripheral nerve: Some patients 8 Weakness: Distal Sensory loss:[neuromuscular.wustl.edu]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    Seemanova Lesny syndrome 0 *Abnormalities, Multiple *Cataract/congenital *Growth Disorders *Hypogonadism *Intellectual Disability *Microcephaly *Muscle Spasticity.[reference.md] Hyperbilirubinemia, Rotor Type; HBLRR OMIM:237800 Hyperbilirubinemia, Shunt, Primary; PSHB OMIM:237900 Hyperbilirubinemia, Transient Familial Neonatal; HBLRTFN OMIM:614156 Hyperbiliverdinemia[informatics.jax.org] […] laxa, autosomal dominant PMM2-CDG (CDG-Ia) Hereditary paraganglioma-pheochromocytoma Hereditary congenital facial paresis Crisponi syndrome Abetalipoproteinemia Rippling muscle[checkrare.com]

  • Waters-West Syndrome

    21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1- SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] Common symptoms include: Facial abnormalities Brain abnormalities Convulsions Low muscle strength Tight leg muscles and difficulty walking (spasticity) Problems with balance[rarediseasesnetwork.org] […] spasms Hirschsprung disease polydactyly heart disease Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis Refsum disease Spastic[checkrare.com]

Further symptoms

Similar symptoms