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4,201 Possible Causes for Genetic Heterogeneity

  • Kohlschütter-Tönz Syndrome

    The other families, mostly presenting with additional atypical features, were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease[ncbi.nlm.nih.gov] Brief Report Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories[doi.org] Houlden, H ; view all (2013) Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity.[discovery.ucl.ac.uk]

  • Hereditary Spastic Paraplegia

    HSP is a clinically and genetically heterogeneous neurodegenerative disorder characterized by degeneration of the corticospinal tract motor neurons and resulting in progressive[ncbi.nlm.nih.gov] The clinical variability observed in HSP is supported by the large underlying genetic heterogeneity.[ncbi.nlm.nih.gov] Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms.[ncbi.nlm.nih.gov]

  • Pure Hereditary Spastic Paraplegia

    The condition is genetically heterogeneous, and loci have been mapped at chromosomes 2p, 8q, 14q, and 15q.[ncbi.nlm.nih.gov] Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms.[ncbi.nlm.nih.gov] Abstract Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs.[ncbi.nlm.nih.gov]

  • Brachyolmia

    These clinical, radiological, and genetic differences suggest genetic heterogeneity in this group of platyspondylic disorders.[ncbi.nlm.nih.gov] This combination has never been reported in the literature and suggests further genetic heterogeneity within brachyolmia.[ncbi.nlm.nih.gov] Abstract The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature[ncbi.nlm.nih.gov]

  • Generalized Epilepsy with Febrile Seizures Plus

    Generalized epilepsy with febrile seizures plus (GEFS ) is an inherited epileptic syndrome with a marked clinical and genetic heterogeneity.[ncbi.nlm.nih.gov] This locus is the second GEFS locus to be reported, which suggests that this syndrome is genetically heterogeneous.[ncbi.nlm.nih.gov] Abstract Generalized epilepsy with febrile seizures plus (GEFS ) comprises a group of clinically and genetically heterogeneous epilepsy syndrome.[ncbi.nlm.nih.gov]

  • Usher Syndrome Type I

    CONCLUSIONS: The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher[ncbi.nlm.nih.gov] These different results support the view that the clinical heterogeneity in Usher syndrome is accounted for by an obvious genetic heterogeneity.[ncbi.nlm.nih.gov] The disorder is clinically and genetically heterogeneous.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1H

    Our findings further expand the clinical and genetic heterogeneity of LGMDs.[moh-it.pure.elsevier.com] Abstract : The limb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder[hal.archives-ouvertes.fr] […] and genetically heterogeneous group of myogenic disorders with a limb-girdle distribution of weakness.[scinapse.io]

  • Hereditary Sensory Neuropathy

    This kindred provides further evidence of the clinical variability among kindreds with hereditary sensory neuropathy, suggesting genetic heterogeneity.[ncbi.nlm.nih.gov] OBJECTIVE: To elucidate genetic heterogeneity in ulcero-mutilating neuropathy.[ncbi.nlm.nih.gov] DISCUSSION: Molecular genetic studies have demonstrated genetic heterogeneity between the hereditary sensory neuropathy type 1 subtypes.[ncbi.nlm.nih.gov]

  • Meckel-Gruber Syndrome

    This is the largest and most comprehensive genomic study on MKS in Arabs and the results, in addition to revealing genetic and allelic heterogeneity, suggest that previously[ncbi.nlm.nih.gov] Meckel-Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality, occipital encephalocele, polydactyly, and polycystic kidney[ncbi.nlm.nih.gov] However, the clinical findings of this syndrome encompass various organ abnormalities as a result of genetic heterogeneity.[ncbi.nlm.nih.gov]

  • Benign Adult Familial Myoclonic Epilepsy

    Abstract Benign adult familial myoclonic epilepsy (BAFME) has been mapped to chromosome 8q24; however, genetic heterogeneity has been recently suggested.[ncbi.nlm.nih.gov] This observation would confirm that BAFME is a worldwide, genetically heterogeneous condition, probably with Japanese families linked to 8q24 and European families to 2p11.1[ncbi.nlm.nih.gov] April 22, 2003 ; 60 (8) Brief Communications Genetic heterogeneity and allelism with ADCME F.A. de Falco , P. Striano , A. de Falco , S. Striano , R. Santangelo , A.[neurology.org]

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