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3,783 Possible Causes for Hearing Impairment, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • Pontocerebellar Hypoplasia Type 2E

    80% and 100% cases Progressive spastic quadriplegia Very Common - Between 80% and 100% cases Opisthotonus Very Common - Between 80% and 100% cases Progressive microcephaly[mendelian.co] The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[sciencedaily.com] Patients with Usher Syndrome Type 2 have mild hearing impairments with normal vestibular responses.[doryeshorim.org]

  • Cerebellar Hypoplasia and Atrophy

    Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia B Ben-Zeev 1, C Hoffman 2, D Lev 3, N Watemberg 3, G[jmg.bmj.com] PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] There was no vision or hearing impairment. The family history was unremarkable. Examination revealed an undernourished, alert infant. Her head circumference was normal.[pediatricneurosciences.com]

  • Fucosidosis

    Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9[ncbi.nlm.nih.gov] Other signs related to fucosidosis include visceromegaly that can affect the spleen, liver, and heart, epilepsy, hearing impairment or total hearing loss, kyphoscoliosis,[symptoma.com] As the disease progresses, more serious and ever worsening symptoms develop, including seizures, spastic quadriplegia, progressive mental retardation and chronic lung infections[disability-benefits-help.org]

    Missing: Mutation in the VPS53 Gene
  • Cerebral Palsy

    In this case report we present a young adult male with non-ambulatory, spastic quadriplegia CP whom began a seated speed, resistance, and power training exercise program at[ncbi.nlm.nih.gov] impairment, gastro-oesophageal reflux and constipation, learning and behavioural difficulties) which require close multi-disciplinary teamwork.[discovery.ucl.ac.uk] Because children with CP may have associated deficits of mental retardation, ophthalmologic and hearing impairments, speech and language disorders, and oral-motor dysfunction[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Acrootoocular Syndrome

    , Mental Retardation, and Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation SPASTIC[rgd.mcw.edu] impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 micrognathia 60 33 frequent (33%) Frequent[malacards.org] […] teeth ; Delayed skeletal maturation ; Dental malocclusion ; Downslanted palpebral fissures ; Epicanthus ; Failure to thrive ; Finger syndactyly ; Growth hormone deficiency ; Hearing[mousephenotype.org]

    Missing: Mutation in the VPS53 Gene
  • Mucopolysaccharidosis 1

    quadriplegia syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Congenital[se-atlas.de] Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may include the following[emedicine.medscape.com]

    Missing: Mutation in the VPS53 Gene
  • Leukodystrophy

    Involvement of the white matter tracts almost universally leads to motor involvement that manifests as hypotonia in early childhood and progresses to spasticity over time.[ncbi.nlm.nih.gov] There was no history of impaired cognition, seizures, impaired vision or hearing, night blindness, malabsorption, headache, vomiting, or episodic deterioration.[annalsofian.org] This may lead to variable motor impairment, from mild spastic diplegia to severe spastic quadriplegia that limits purposeful movement.[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Hyperargininemia

    Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.[uniprot.org] impairments Prevention The best way to prevent viral encephalitis is to take precautions to avoid exposure to viruses that can cause the disease.[mayoclinic.org] Main features include failure to thrive, signs of hyperammonemia (anorexia, irritability, tachypnea, lethargy, vomiting), and additional neurologic signs (progressive spastic[accessanesthesiology.mhmedical.com]

    Missing: Mutation in the VPS53 Gene
  • Mitochondrial Neurogastrointestinal Encephalomyopathy

    […] to quadriplegia, and progressive dementia.[en.wikipedia.org] The disease can cause the slowing down of thoughts and a reduction in physical movement, hearing impairment and seizures.[thesun.co.uk] Hearing impairment associated to severe encephalomyopathy has been only reported in one family with MDS caused by SUCLA2 mutations ( 14 ).[nature.com]

    Missing: Mutation in the VPS53 Gene
  • Propionic Acidemia

    The patients demonstrate progressive ataxia, spastic quadriplegia, and relatively preserved mental capacities.[docslide.us] It can be assumed that acute and chronic effects of accumulating metabolites on the KvLQT1/KCNE1 channel protein may similarly cause the hearing impairment of patients with[ncbi.nlm.nih.gov] Hearing impairment.[vdocuments.mx]

    Missing: Mutation in the VPS53 Gene

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