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36 Possible Causes for Cardiomyopathy, Green Jaundice, Psychomotor Retardation

  • Propionic Acidemia

    acid synthesis defect with cholestasis and malabsorption Biotin-thiamine-responsive basal ganglia disease Biotinidase deficiency Björnstad syndrome Blue diaper syndrome Brachytelephalangic[se-atlas.de] Cardiomyopathy is a frequent complication in propionic acidemia. It is mostly rapidly fatal and independent of the metabolic control or medical intervention.[ncbi.nlm.nih.gov] Cardiac investigations revealed severe dilated cardiomyopathy (DCM). Biochemical work up led to the diagnosis of PA.[ncbi.nlm.nih.gov]

  • Isolated CoQ-Cytochrome C Reductase Deficiency

    acid synthesis defect with cholestasis and malabsorption 0 Blackfan-Diamond disease 0 Breast cancer, familial 0 CACH syndrome 0 COFS syndrome 0 Cardiofaciocutaneous syndrome[research.cchmc.org] Disease Type of connection Histiocytoid cardiomyopathy Leber hereditary optic neuropathy Leigh syndrome with nephrotic syndrome Björnstad syndrome GRACILE syndrome Renal tubulopathy[csbg.cnb.csic.es] Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and[genecards.org]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1B

    acid synthesis defect with cholestasis and malabsorption Biotin-thiamine-responsive basal ganglia disease Biotinidase deficiency Björnstad syndrome Blue diaper syndrome Brachytelephalangic[se-atlas.de] Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy, slowly progressive[ncbi.nlm.nih.gov] LGMD1B is caused by variants in the LMNA gene, and there is considerable phenotypic overlap with the laminopathies, dilated cardiomyopathy and the autosomal dominant form[exeterlaboratory.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2R

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] Cardiomyopathy Cardiovascular Cytoskeleton Intermediate Filaments Muscle ARVC Cardiomyopathy Desmin Heart Failure PALM Footnotes 1 Supported by German Ministry of Education[doi.org] retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion[se-atlas.de]

  • Autosomal Dominant 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] retardation [ ] Anisakiasis [ ] Ankyloblepharon - ectodermal defects - cleft lip/palate [ ] Ankyloblepharon filiforme adnatum - cleft palate [ ] Ankyloblepharon filiforme[wikicure.wikia.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N

    acid synthesis defect with cholestasis and malabsorption Biotin-thiamine-responsive basal ganglia disease Biotinidase deficiency Björnstad syndrome Blue diaper syndrome Brachytelephalangic[se-atlas.de] LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ].[pubs.sciepub.com] Cardiomyopathy, familial hypertrophic (CAV3) Dilated cardiomyopathy, 1I (DES) Cardiomyopathy, dilated, 3B, X-linked (DMD) Cardiomyopathy, familial hypertrophic, 1 (MYH7)[meduniwien.ac.at]

  • Congenital Muscular Dystrophy Type 1D

    acid synthesis defect with cholestasis and malabsorption Biotin-thiamine-responsive basal ganglia disease Biotinidase deficiency Björnstad syndrome Blue diaper syndrome Brachytelephalangic[se-atlas.de] Among the nonspecified dystroglycanopathies, CI manifests as dilated cardiomyopathy, hypertrophic cardiomyopathy (CMP) or systolic dysfunction.[pediatrics.aappublications.org] FKTN MDDGA4, MDDGB4, MDDGC4 (LGMD2M), dilated cardiomyopathy GAA glycogen storage disease-2 (Pompe disease) GMPPB MDDGA14, MDDGB14, MDDGC14 (LGMD2T) HNRNPDL * LGMD1G ISPD[invitae.com]

  • Biotin-Responsive Basal Ganglia Disease

    acid synthesis defect with cholestasis and malabsorption Biotin-thiamine-responsive basal ganglia disease Biotinidase deficiency Björnstad syndrome Blue diaper syndrome Brachytelephalangic[se-atlas.de] Deficiency of this enzyme causes severe psychomotor retardation and ACIDOSIS, LACTIC in infants. EC 6.4.1.1.[bioportfolio.com] Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphosphatasia-intellectual disability syndrome Hyperprolinemia type 1 Hyperprolinemia type 2 Hypertrophic cardiomyopathy[se-atlas.de]

  • Hereditary North American Indian Childhood Cirrhosis

    acid synthesis defect with cholestasis and malabsorption Biliary atresia with splenic malformation syndrome Budd-Chiari syndrome CADDS Caroli disease Cerebrotendinous xanthomatosis[se-atlas.de] The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures ...[kegg.jp] Kayser-Fleischer ring—brown-green ring of copper deposit around the cornea, pathognomonic for Wilson’s disease Nail changes: Muehrcke’s nails—paired horizontal white bands[aafp.org]

  • 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] retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion[se-atlas.de] GSD with severe cardiomyopathy due to glycogenin deficiency GSDXIII GTN GTPCH1-deficient dopa-responsive dystonia GTPCH1-deficient DRD GTPCH deficiency GTP cyclohydrolase[orpha.net]

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