Create issue ticket

1,935 Possible Causes for Dysdiadochokinesis, Mutation in the WWOX Gene, Small Foot

  • 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: Small Foot
  • Autosomal Recessive Spastic Paraplegia Type 48

    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] When present it is found in distal muscles in the lower limbs, usually the small muscles of the foot and tibialis anterior.[jnnp.bmj.com] Gait was spastic–ataxic, and he had dysdiadochokinesis in both hands. Strength, coordination, and sensation were normal on bedside examination.[ng.neurology.org]

  • Spastic Ataxia with Congenital Miosis

    […] anteverted nares, and a prominent columella), hand and foot abnormalities (syndactyly of third, fourth, and fifth fingers and second, third, and fourth toes, clinodactyly[clinicalgate.com] 33 HP:0002075 12 abnormal conjugate eye movement 33 HP:0000549 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: dysdiadochokinesis delayed[malacards.org] Physical examination showed gait ataxia and dysmetria and dysdiadochokinesis of the limbs.[findzebra.com]

    Missing: Mutation in the WWOX Gene
  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411–9.[cerebellumandataxias.biomedcentral.com] [ more ] 0001763 Short stature Decreased body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Showing of 17 Last[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.medscape.com]

  • Myelocerebellar Disorder

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] […] hand Infertility Short foot Tapered finger Stroke Arachnodactyly Hypogonadism Hypermetropia Polymicrogyria Short palm Genu valgum Pruritus Dolichocephaly Abnormality of the[mendelian.co] […] 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]

  • 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] When present it is found in distal muscles in the lower limbs, usually the small muscles of the foot and tibialis anterior.[jnnp.bmj.com] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.org]

  • Autosomal Dominant Spastic Paraplegia Type 31

    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] When present it is found in distal muscles in the lower limbs, usually the small muscles of the foot and tibialis anterior.[jnnp.bmj.com] Developmental stagnation Generalized dystonia Relative macrocephaly Eye of the tiger anomaly of globus pallidus Prominent nose Sloping forehead Increased susceptibility to fractures Dysdiadochokinesis[mendelian.co]

  • Autosomal Recessive Spastic Paraplegia Type 23

    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] When present it is found in distal muscles in the lower limbs, usually the small muscles of the foot and tibialis anterior.[jnnp.bmj.com] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.org]

  • Autosomal Dominant Spastic Paraplegia Type 17

    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] When present it is found in distal muscles in the lower limbs, usually the small muscles of the foot and tibialis anterior.[jnnp.bmj.com] There was dysdiadochokinesis. We identified two variants in SPG11, a frameshift mutation in exon 25 (c.4307_4308del) and the c. 5381T C variant in exon 30.[nature.com]