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18 Possible Causes for Cardiomyopathy, Green Jaundice, Moderate to Profound Mental Retardation

Did you mean: Cardiomyopathy, Green Jaundice, Moderate to, Profound Mental Retardation

  • 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] 1A 6 Dilated Cardiomyopathy 1Aa 6 Dilated Cardiomyopathy 1BB 1 Dilated Cardiomyopathy 1C 6 Dilated Cardiomyopathy 1CC 6 Dilated Cardiomyopathy 1D 4 Dilated Cardiomyopathy[preventiongenetics.com] Profound mental retardation is observed in severe forms of MPS-I and MPS-II, and in all types of MPS-III, usually with early death in childhood.[elsevier.es]

  • 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] AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness.[malacards.org]

  • 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] , dilated, 1Z) TNNI2 (Arthrogryposis multiplex congenita, distal type 2B) TNNI3 (Cardiomyopathy, dilated, 1FF) TNNT1 (Nemaline Myopathy, Amish Type) TNNT2 (Cardiomyopathy,[en.praenatal-medizin.de] The following are known to have a genetic cause: Arrhythmia and Cardiomyopathy Skeletal Muscle Disease Aortopathy and Connective Tissue Disorders Familial Hypercholesterolemia[genomicinterpretation.org]

  • Pelviscapular Dysplasia

    […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] mental retardation, congenital muscular dystrophy, and early death.[mendelian.co] […] del Cardiomyopathy, dilated, with premature ovarian failure LMNA del Cardiomyopathy, dilated, with primary testicular failure LMNA del Cardiomyopathy, familial hypertrophic[uniklinik-freiburg.de]

  • Craniodiaphyseal Dysplasia

    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] Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features Sillence syndrome Urogenital adysplasia MOGS-CDG (CDG-IIb) Familial Mediterranean fever Cardiomyopathy[checkrare.com] […] of the MYH6 gene Cardiomyopathy, dilated, 1FF Sanger Sequencing of the TNNI3 gene Cardiomyopathy, dilated, 1G NGS and Sanger Sequencing of the TTN gene Cardiomyopathy, dilated[pentacorelab.hu]

  • Hereditary Gingival Fibromatosis

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] Genomics (2000) [ Pubmed ] Zimmerman-Laband syndrome and profound mental retardation. Chodirker, B.N., Chudley, A.E., Toffler, M.A., Reed, M.H. Am. J. Med.[wikigenes.org] Zimmerman-Laband syndrome and profound mental retardation . Am J Med Genet 1986 ; 25 : 543 – 547 . 198 Kratz CL , Morin CK .[onlinelibrary.wiley.com]

  • Schneckenbecken Dysplasia

    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] Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a[globalgenes.org] […] edema Venous insufficiency Causes by Organ System Cardiovascular Aorta-pulmonary artery fistula, aortic coarctation, capillary leak syndromes, deep vein thrombosis, dilated cardiomyopathy[wikidoc.org]

  • Glutamate Formiminotransferase Deficiency

    […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] […] hypertrophic cardiomyopathy 7 Familial hypertrophic cardiomyopathy 6 Familial hypertrophic cardiomyopathy 4 Familial hypertrophic cardiomyopathy 3 Familial hypertrophic cardiomyopathy[amp.pharm.mssm.edu] Mg-Coa-Hydratase Deficiency Mga, Type I MGCA1 250950 Genetic Test Registry 3-Methylglutaconic Aciduria, Type III MGCA3 258501 Genetic Test Registry 3-Methylglutaconic Aciduria, Type V Cardiomyopathy[ukgtn.nhs.uk]

  • Colobomatous Microphthalmia - Rhizomelic Dysplasia 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] Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a[globalgenes.org] mental retardation, severe growth restriction, failure to undergo puberty, behavior problems; microcephaly, cleft palate, bilateral ptosis, hypertelorism, epicanthal folds[chr7.org]

  • Muscular Dystrophy-Dystroglycanopathy Type C12

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] Indeed, progressive cardiomyopathy has become a major cause of morbidity and mortality in these patients since progressive respiratory failure—the former number one cause[pmj.bmj.com] mental retardation, and death usually in the first years of life.[ghr.nlm.nih.gov]

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