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960 Possible Causes for Autosomal Recessive, Laurence Moon Syndrome

  • Laurence Moon Syndrome

    From Wikidata Jump to navigation Jump to search rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities[] recessive inheritance.[] Laurence Moon syndrome is a rare genetic disease of a multisystemic nature that features hypopituitarism, obesity, mental retardation, ataxia, and retinal dystrophy.[]

  • Boucher-Neuhauser Syndrome

    recessive pattern of inheritance.[] Synonyms of Laurence-Moon Syndrome adipogenital-retinitis pigmentosa syndrome LNMS LMS General Discussion Summary Laurence-Moon syndrome (LNMS) is a genetic condition that[] Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar[]

  • Bardet-Biedl Syndrome Type 11

    An autosomal recessive form of Bardet-Biedl syndrome (OMIM:209900), a genetically heterogeneous disorder characterised by usually severe pigmentary retinopathy, early-onset[] How Is Laurence-Moon Syndrome Diagnosed?[] Bardet-Biedl syndrome (BBS) is an autosomal recessive multisystemic genetic disorder characterised by six major defects including obesity, learning disability, renal anomalies[]

  • Stuve-Wiedemann Syndrome

    Stüve-Wiedemann syndrome (OMIM #601559) is a rare, autosomal recessive disorder characterized by skeletal dysplasia, consecutive infections, feeding difficulties and autonomic[] PNPLA6 gene mutations cause hereditary spastic paraplegia (SPG39 HSP), Gordon-Holmes syndrome, Boucher-Neuhäuser syndromes, Laurence-Moon syndrome, and Oliver-McFarlane syndrome[] The fact that these sisters had an affected double first cousin supports autosomal-recessive inheritance of SWS.[]

  • Autosomal Recessive Spastic Paraplegia Type 39

    Test Catalog Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel Test description The Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel analyzes[] , intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and[] ; Laurence-moon Syndrome; Oliver-mcfarlane Syndrome; Spastic Paraplegia 39, Autosomal Recessive Research Articles on PNPLA6 Precautions All of MyBioSource's Products are for[]

  • Neuhauser Syndrome

    OMIM : 58 Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and[] Oliver-McFarlane syndrome Laurence-Moon syndrome (deletion/duplication analysis on PNPLA6 gene) Hereditary spastic paraplegia, AR and X-linked (NGS panel of 33 genes)[] However, we did not find any mutations in the PNPLA6 gene in 88 patients with autosomal recessive hereditary spastic paraplegia (ARHSP).[]

  • Gordon Holmes Syndrome

    We report a rare case of Gordon Holmes syndrome-an autosomal recessive cerebellar ataxia with endocrinal abnormalities.[] Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.[] “RNF216 Mutations as a Novel Cause of Autosomal Recessive Huntington-like Disorder.” Neurology 84 (17): 1760–1766.[]

  • Sorsby Syndrome

    recessive, 2616171 PNPLA6Boucher-Neuhauser syndrome,215470 PNPLA6Oliver-McFarlane syndrome,275400 PNPLA6Spastic paraplegia 39 autosomal recessive,612020 PNPLA6?[] Abstract The Laurence-Moon-Biedl syndrome was first described by Laurence and M o on in the British Journal of Ophthalmology in 1866.[] Fourth is our patient who has the typical pentad of Laurence-Moon-Biedl syndrome.[]

  • Alstrom Syndrome

    The diagnosis is based on clinical, biologic (hyperglycemia with hyperinsulinism), and genetic criteria (autosomal recessive disorder on chromosome 2).[] Other unusual pigmentary retinopathies that must be distinguished from Alström syndrome include renal retinal dysplasia, Laurence-Moon syndrome, and Ushers syndrome.3,6-9[] Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped[]

  • Congenital Hepatic Fibrosis

    recessive polycystic kidney disease (ARPKD) is a developmental disorder that mainly affects the kidneys and the biliary tract.[] A 33 year old woman with mental deficiency, retinitis pigmentosa, obesity, and parental consanguinity (heredity) was diagnosed as having Laurence-Moon-Biedl syndrome.[] […] in autosomal recessive disorders.[]

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