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63 Possible Causes for Cardiomyopathy, Green Jaundice, Muscle 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] Clinically, she was thought to have restrictive cardiomyopathy or constrictive pericarditis.[ncbi.nlm.nih.gov] Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk.[ghr.nlm.nih.gov]

  • 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] LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ].[pubs.sciepub.com] 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]

  • Combined Oxidative Phosphorylation Deficiency Type 3

    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] […] and Arrhythmogenic right ventricular cardiomyopathy, as well as many others.[books.google.com] COXPD6 is a mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting.[abcam.com]

  • AICA-Ribosiduria

    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] BIALLELIC, autosomal or pseudoautosomal Sources Expert Review Green Phenotypes Intellectual disability AICAR transformylase deficiency (Disorders of purine metabolism) ATIC in Cardiomyopathies[panelapp.genomicsengland.co.uk] Cardiomyopathy, dilated, 1R, 613424 (3) ACTC1 G:102540 . Cardiomyopathy, familial hypertrophic, 11, 612098 (3) ACTC1 G:102540 .[usegalaxy.org]

  • 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] Associated with more severe cardiomyopathy Progression: Slow Exercise intolerance (50%) Fatigue & Myalgia: Occasional patient Muscle hypertrophy : Calves Rhabdomyolysis :[neuromuscular.wustl.edu] hypotonia, enlarged heart and death, usu before age 2 (cardioresp failure) juvenile: progressive skeletal muscle hypotonia w/ out wasting, leading to delayed motor milestones[quizlet.com]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    […] to 21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1-SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] , Dilated, 1ee MYH6 Cardiomyopathy, Dilated, 1g TTN Cardiomyopathy, Dilated, 1y TPM1 Cardiomyopathy, Familial Hypertrophic, 1 MYH6 Cardiomyopathy, Familial Hypertrophic, 14[selfdecode.com] […] regression Cataract Absent speech Congenital contracture Hypertrophic cardiomyopathy Ventriculomegaly Polyhydramnios Lactic acidosis Tremor Cardiomyopathy Focal motor seizures Muscle[mendelian.co]

  • Hypertrichotic Osteochondrodysplasia

    Cases 401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 4 Cases 168588 Hyperandrogenism due to cortisone reductase deficiency 11 Cases 276405 Hyperbiliverdinemia[azkurs.org] Diseases related with Cardiomyopathy and Short phalanx of finger In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Short[mendelian.co] Some affected children have weak muscle tone (hypotonia) that delays the development of motor skills such as sitting, standing, and walking.[ghr.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    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] 1A Dilated cardiomyopathy 1A Dilated cardiomyopathy 1AA Dilated cardiomyopathy 1BB Dilated cardiomyopathy 1C Dilated cardiomyopathy 1D Dilated cardiomyopathy 1E Dilated cardiomyopathy[pentacorelab.hu] hypotonia (COX20) 1 Atopy (CYSLTR1, CYSLTR2, F2RL1, IL12RB2, IL4R, MS4A2, PGM3, PLA2G7, SART1, SELP, SPINK5) 11 Atrichia with papular lesions (HR) 1 Atypical hemolytic uremic[viafet.com]

  • Congenital Disorder of Glycosylation Type 1Y

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] There is a 20% lethality in the first year of life due to severe infections, liver insufficiency, or cardiomyopathy. {38:Marques-da-Silva et al. (2017)} noted that CDG1A is[diseaseinfosearch.org] These functional and morphological changes in postsynapses and muscle fibers cause hypotonia in patients with CDG.[jaclinicalreports.springeropen.com]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    Hyperbilirubinemia, Rotor Type; HBLRR OMIM:237800 Hyperbilirubinemia, Shunt, Primary; PSHB OMIM:237900 Hyperbilirubinemia, Transient Familial Neonatal; HBLRTFN OMIM:614156 Hyperbiliverdinemia[informatics.jax.org] Cardiomyopathy hypogonadism collagenoma syndrome 0 *Collagen Diseases *Hypogonadism *Cardiomyopathies *Skin Neoplasms.[reference.md] The older patients had delayed physical and mental development, mental retardation, progressive muscle weakness, hypotonia of legs, and cataract.[cags.org.ae]

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