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5,415 Possible Causes for For, Autosomal Recessive Forms See CMT2B1 and CMT2B2

Did you mean: For, Autosomal Recessive, Forms See, CMT2B1, and, CMT2B2

  • Unverricht-Lundborg Syndrome

    Unverricht disease, Unverricht syndrome (oon′fĕr-ikt″) [Heinrich Unverricht, Ger. physician, 1853–1912] A rare, fatal disease inherited as an autosomal recessive trait.[] Genetics It carries an autosomal recessive inheritance and is caused due to a mutation in the cystatin B gene ( CSTB ).[] ORPHA:308 Synonym(s): PME type 1 Progressive myoclonic epilepsy type 1 Progressive myoclonus epilepsy type 1 ULD Prevalence: 1-9 / 1 000 000 Inheritance: Autosomal recessive[]

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  • Lafora Disease

    Most cases are caused by changes ( mutations ) in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner.[] Lafora body disease is a rare neurometabolic disorder of autosomal recessive inheritance.[] Lafora disease is a rare, fatal, autosomal recessive hereditary disease characterized by epilepsy, myoclonus and progressive neurological deterioration.[]

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  • Wolfram Syndrome

    The Wolfram syndrome (WS) is an autosomal recessive disorder beginning in childhood that consists of four clinical features: diabetes insipidus, diabetes mellitus, optic atrophy[] Wolfram syndrome - autosomal recessive disorder characterized by juvenile diabetes mellitus and optic atrophy.[] Wolfram syndrome is a very rare autosomal recessive genetic disease comprising of diabetes insipidus, diabetes mellitus, atrophy of the optic nerve, deafness, and progressive[]

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  • Kohlschütter-Tönz Syndrome

    ORPHA:1946 Synonym(s): Epilepsy-dementia-amelogenesis imperfecta syndrome Kohlschutter-Tonz syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal, Infancy[] Origin of the parents of our patient from neighboring villages supports autosomal recessive inheritance of Kohlschütter-Tönz syndrome.[] recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.[]

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  • Wolcott-Rallison Syndrome

    Clinical presentation and radiological features are suggestive of Wolcott-Rallison syndrome, a rare autosomal recessive disease.[] Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal recessive disorder that manifests itself in[] The main focus for this autosomal recessive disease is mutations to the EIF2AK3 gene. This gene is located on chromosome 2 p11.2.[]

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  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    ORPHA:98920 Synonym(s): Autosomal recessive distal spinal muscular atrophy type 1 Autosomal recessive spinal muscular atrophy with respiratory distress Diaphragmatic spinal[] Spinal muscular atrophy with respiratory distress (SMARD 1) is a very rare autosomal recessive motor neuron disorder that affects infants and is characterized by diaphragmatic[] Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene and characterized[]

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  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    OBJECTIVE: To describe the clinical features of a novel variant of autosomal recessive lower motor neuron disease (LMND) with childhood onset and to map the disease-causing[] The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset..[] Results: This novel variant of LMND with childhood onset and autosomal recessive mode of inheritance is characterized by a progressive symmetric and generalized involvement[]

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  • Progressive Myoclonic Epilepsy Type 3

    Neuronal Ceroid Lipofuscinosis  autosomal recessive disease.  characterized by progressive myoclonus with visual failure and accumulation of an autofluorescent lipopigment[] disease, type 2B1 605588 CMT Charcot-Marie-Tooth LMNB2 Epilepsy, progressive myoclonic, 9 150341 EPI Epilepsy Panel LRSAM1 CMT2P 614436 CMT Charcot-Marie-Tooth MAN2B1 Mannosidosis[] recessive disorder caused by a deficiency of ß-glucosidase (glucocerebrosidase) which results in an accumulation of glucocerebroside in various organs and tissues.[]

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  • Gitelman Syndrome

    Gitelman syndrome is inherited in an autosomal-recessive manner: one defective allele has to be inherited from each parent.[] Gitelman's syndrome is a rare autosomal-recessive tubular disorder characterized by hypomagnesemia and hypocalciuria associated to hypokalemia.[] No: 24/14, Mamak, Ankara, Turkey. Abstract Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemia, metabolic alkalosis[]

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  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[] Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion.[] Hereditary hemochromatosis (HH) is an autosomal-recessive disorder of iron metabolism that most commonly manifests in the fourth or fifth decade of life.[]

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