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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[wikidata.org] recessive inheritance.[medical-dictionary.thefreedictionary.com] Laurence Moon syndrome is a rare genetic disease of a multisystemic nature that features hypopituitarism, obesity, mental retardation, ataxia, and retinal dystrophy.[symptoma.com]

  • Boucher-Neuhauser Syndrome

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

  • 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[medical-dictionary.thefreedictionary.com] How Is Laurence-Moon Syndrome Diagnosed?[familyconnect.org] Bardet-Biedl syndrome (BBS) is an autosomal recessive multisystemic genetic disorder characterised by six major defects including obesity, learning disability, renal anomalies[patient.info]

  • Stuve-Wiedemann Syndrome

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

  • 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[invitae.com] , intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and[ncbi.nlm.nih.gov] ; Laurence-moon Syndrome; Oliver-mcfarlane Syndrome; Spastic Paraplegia 39, Autosomal Recessive Research Articles on PNPLA6 Precautions All of MyBioSource's Products are for[mybiosource.com]

  • Neuhauser Syndrome

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

  • Gordon Holmes Syndrome

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

  • Sorsby Syndrome

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

  • Alstrom Syndrome

    The diagnosis is based on clinical, biologic (hyperglycemia with hyperinsulinism), and genetic criteria (autosomal recessive disorder on chromosome 2).[ncbi.nlm.nih.gov] Other unusual pigmentary retinopathies that must be distinguished from Alström syndrome include renal retinal dysplasia, Laurence-Moon syndrome, and Ushers syndrome.3,6-9[healio.com] 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[ncbi.nlm.nih.gov]

  • Congenital Hepatic Fibrosis

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

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