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847 Possible Causes for Dysdiadochokinesis, Everted Lips, Mutation in the WWOX Gene

  • Early Infantile Epileptic Encephalopathy Type 2

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] […] hypoplasia Abnormal pyramidal sign Dysmetria Hirsutism Brain atrophy Heterotopia Intrauterine growth retardation Truncal ataxia Intellectual disability, progressive Lissencephaly Dysdiadochokinesis[mendelian.co] The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.[disorders.eyes.arizona.edu]

  • Spinocerebellar Ataxia Type 12

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] MalaCards based summary : Spinocerebellar Ataxia 12, also known as sca12, is related to spinocerebellar ataxia 36 and aceruloplasminemia, and has symptoms including dysdiadochokinesis[malacards.org] […] size of the outer layer of the brain due to loss of brain cells 0002120 Delusions 0000746 Depressivity Depression 0000716 Dysarthria Difficulty articulating speech 0001260 Dysdiadochokinesis[rarediseases.info.nih.gov]

    Missing: Everted Lips
  • Autosomal Recessive Spastic Paraplegia Type 49

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.org] […] lower lip and outstanding ears Advanced sleep phase syndrome, familial Primary carnitine deficiency Cone dystrophy Trismus-pseudocamptodactyly syndrome Combined oxidative[checkrare.com]

  • Autosomal Recessive Spinocerebellar Ataxia 8

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] […] hemisphere) Neocerebellum Connected with Pons and cortex through thalalmus Planning and initiation of movements Regulation of fine limb movements Limb ataxia: Dysmetria, Dysdiadochokinesis[slideshare.net] 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent falling early in disease Dysdiadochokinesis[emedicine.medscape.com]

    Missing: Everted Lips
  • Multiple Sclerosis

    Multiple Sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system and is one of the main causes of disability in young adults. Alemtuzumab is a humanized monoclonal anti CD52 antibody approved for active relapsing-remitting (RR) multiple sclerosis (MS) exerting its strong clinical efficacy[…][ncbi.nlm.nih.gov]

    Missing: Everted Lips Mutation in the WWOX Gene
  • Perinatal Lethal Gaucher Disease

    […] lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism ; Hypokinesia ; Intrauterine growth retardation ; Low-set[mousephenotype.org] […] lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Everted upper lip vermilion Outward turned upper lip 0010803 Hepatic failure Liver failure[rarediseases.info.nih.gov] […] erythroderma ; Decreased beta-glucocerebrosidase protein and activity ; Decreased fetal movement ; Depressed nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted[mousephenotype.org]

    Missing: Dysdiadochokinesis Mutation in the WWOX Gene
  • Mucopolysaccharidosis

    Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and[…][ncbi.nlm.nih.gov]

    Missing: Dysdiadochokinesis Mutation in the WWOX Gene
  • Cataract - Congenital Heart Disease - Neural Tube Defect Syndrome

    Hernia Diarrhea Tremor Lymphoma Cortical visual impairment Multiple lipomas Melanocytic nevus Melanoma Cellulitis Hamartoma Lipoma Fibroma Increased intracranial pressure Dysdiadochokinesis[mendelian.co] Frontal bossing, sunken cheeks, and thick and everted lips may be part of the facial phenotype.[disorders.eyes.arizona.edu] […] lower lip vermilion Microtia Joint laxity Triangular face Thin upper lip vermilion Autism Pain Intellectual disability, moderate Leukemia Short palpebral fissure Brachydactyly[mendelian.co]

    Missing: Mutation in the WWOX Gene
  • Spinocerebellar Ataxia Type 1

    Slow eye movements 0000514 Slurred speech 0001350 Staring gaze 0025401 Upgaze palsy 0025331 5%-29% of people have these symptoms Abnormality of masticatory muscle 0410011 Dysdiadochokinesis[rarediseases.info.nih.gov] 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent falling early in disease Dysdiadochokinesis[emedicine.com] […] dysmetria Position sense defects Spinocerebellar ataxia 36 [40] Clinical features Mean age of onset - Approximately 53 years Truncal ataxia Ataxic dysarthria Limb ataxia Dysdiadochokinesis[emedicine.com]

    Missing: Everted Lips Mutation in the WWOX Gene
  • Huntington's Disease

    Behavioral changes and cognitive decline are the core clinical manifestations in the behavioral variant of frontotemporal dementia (bv-FTD). The behavioral changes may include characteristic stereotypic movements. These movements, although without clear purpose, are not involuntary. Involuntary movements are usually[…][ncbi.nlm.nih.gov]

    Missing: Everted Lips Mutation in the WWOX Gene