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67 Possible Causes for Genetic Heterogeneity, Talipes Cavus

  • 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[] The clinical variability observed in HSP is supported by the large underlying genetic heterogeneity.[] Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms.[]

  • Charcot Marie Tooth Disease

    There have been substantial advances in elucidating the molecular bases of this genetically heterogeneous neuropathy and, in most cases, molecular diagnosis is now possible[] Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma (CMT4B2, OMIM 604563) is a genetically-heterogeneous childhood-onset neuromuscular disorder.[] Charcot-Marie-Tooth disease (CMT) is genetically heterogeneous and classification based on motor nerve conduction velocity and inheritance is used to direct genetic testing[]

  • Talipes Cavus

    Also known as Hereditary Motor and Sensory Neuropathy (HMSN), it is genetically heterogeneous and usually presents in the first decade of life with delayed motor milestones[] Synonym: pes cavus ; talipes cavus talipes calcaneus Talipes in which the foot is dorsiflexed and the heel alone touches the ground.[] Also known as Hereditary Motor and Sensory Neuropathy (HMSN), it is genetically heterogeneous and occasionally idiopathic.[]

  • Spastic Paraplegia

    Complex forms of spastic paraplegia (SPG) are rare and genetically heterogeneous.[] , mild talipes equinovarus, kyphoscoliosis Mild to moderate intellectual disability Imaging features on brain MRI.[] Gene sequencing is a powerful diagnostic tool to identify a causal mutation in genetically heterogeneous HSP.[]

  • Marfan Syndrome

    KEYWORDS: FBN1 gene; Genetic heterogeneity; Homozygosity; Marfan syndrome [Indexed for MEDLINE] Free full text[] Different gene mutations are responsible for genetic heterogeneity.[] Genetic heterogeneity of Shprintzen-Goldberg syndrome. Abstract 617. Salt Lake City, UT: The American Society of Human Genetics 55th Annual Meeting; 2005.[]

  • Refsum Disease

    Interestingly, Refsum disease is genetically heterogeneous; two genes, PHYH (also named PAHX) and PEX7, have been identified to cause Refsum disease, as reviewed in this work[] heterogeneity in Refsum disease.[] heterogeneous.[]

  • Reiter's Syndrome

    heterogeneous group of abnormalities as a result of mutations in at least 4 different gene loci.[] […] cases, but it can also occur sporadically. [5] It has complete penetrance with variable expressivity and is associated with a 50% risk of glaucoma. [3] [5] [6] ARS is a genetically[]

  • Friedreich Ataxia

    heterogeneity - not all patients with FA have FXN mutations Presenting Symptoms Progressive ataxia - typically first symptom Kyphoscoliosis - may predate ataxia Progressive[] Talipes cavus may render gait, already compromised by ataxia, even more difficult.[] Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes. J Neurol Neurosurg Psychiatry 1990 ;53: 667 - 670 8.[]

  • Hereditary Areflexic Dystasia

    When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome ( DSS ).For a phenotypic description and a discussion of genetic heterogeneity of[] heterogeneity.[] Genetic Heterogeneity of Autosomal Dominant Intermediate CMTIn addition to CMTDIB, which is caused by mutation in the DNM2 gene, other forms of dominant intermediate CMT include[]

  • Neurological Disorder

    […] and addicts may express varying stages and degrees of the disease as determined by environmental and genetic factors.[] […] postulating neuropathology as an intrinsic component of stimulant addiction, should be taken into consideration with the caveat that the clinical manifestations of the disease are heterogenous[]

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