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21 Possible Causes for Mutation in the WWOX Gene, Poor Feeding

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive).[ncbi.nlm.nih.gov] The diagnosis of neonatal HSV can be difficult, but it should be suspected in any newborn with irritability, lethargy, fever or poor feeding at one week of age.[aafp.org]

  • 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] Our patient presented with neonatal hypotonia and feeding difficulties, then developed pharmacoresistant epileptic encephalopathy, characterized by multiple seizure types[ncbi.nlm.nih.gov] difficulties in infancy Tented upper lip vermilion Short chin Focal seizures with impairment of consciousness or awareness Clinodactyly Retrognathia Vomiting Thick eyebrow[mendelian.co]

  • Dursun Syndrome

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] Feeding difficulty necessitated nasogastric (NG) intubation.[jcnonweb.com] difficulties persist.[dovemed.com]

  • Growth Retardation

    By whole-exome sequencing, we identified a homozygous WWOX nonsense mutation, p.Arg54*, in a girl from a consanguineous family with a severe syndrome of growth retardation[ncbi.nlm.nih.gov] difficulties, abnormal subcutaneous adipose tissue, similar facial dysmorphism, psychomotor retardation and hypotonia.[ncbi.nlm.nih.gov] difficulties, feed intolerance, necrotising enterocolitis, late-onset sepsis, pulmonary haemorrhage.[patient.info]

  • Myelocerebellar Disorder

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] […] suck Decreased antibody level in blood Delayed puberty Athetosis Choreoathetosis Specific learning disability Apraxia Milia Myoclonus Dystonia Cataract Truncal ataxia Feeding[mendelian.co] […] anomalies-distal phalangeal hypoplasia Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Severe intellectual disability-progressive[se-atlas.de]

  • Autosomal Dominant Spastic Paraplegia Type 13

    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] Respiratory difficulties and poor feeding are often present.[disorders.eyes.arizona.edu] Affected infants may also develop respiratory and feeding difficulties.[rarediseases.org]

  • Autosomal Dominant Spastic Paraplegia Type 8

    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] Affected infants may also develop respiratory and feeding difficulties.[rarediseases.org] Infants and young children may have feeding difficulties but may later develop constipation or diarrhea.[disorders.eyes.arizona.edu]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    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] (c) Krabbe disease In the infantile form of Krabbe disease (globoid-cell leukodystrophy [GLD]), symptoms such as difficulty in holding up the head, poor feeding, and irritability[plaza.umin.ac.jp] The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411–9.[link.springer.com]

  • 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] Glycogen Storage Disease, Type 4 often causes symptoms in infancy with poor feeding and growth (failure to thrive), an enlarged liver and spleen, enlarged heart, low muscle[natera.com] […] problems, developmental delay, intellectual disability, seizures, vision problems, poor muscle tone (hypotonia), and large red blood cells (megaloblastic anemia).[natera.com]

  • Autosomal Dominant Spastic Paraplegia Type 19

    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] Affected infants may also develop respiratory and feeding difficulties.[rarediseases.org] Some infants may experience respiratory and feeding difficulties shortly after birth (neonatal period).[rarediseases.org]

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