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1,076 Possible Causes for Agenesis of Corpus Callosum, Muscle Hypotonia

  • Mowat-Wilson Syndrome

    Low or weak muscle tone 0001252 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Posteriorly rotated ears Ears rotated toward[rarediseases.info.nih.gov] […] of the corpus callosum.[symptoma.com] We report a girl who had Hirschsprung disease in association with distinct facial appearance, microcephaly, agenesis of the corpus callosum and mental retardation (Mowat-Wilson[ncbi.nlm.nih.gov]

  • Lissencephaly

    MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum.[ncbi.nlm.nih.gov] Children who are born with lissencephaly suffer from severe motor impairment, seizures, muscle spasticity, muscle hypotonia, facial abnormalities, difficulty swallowing, abnormalities[disabilitybenefitscenter.org] Infants with ILS may have poor muscle tone (hypotonia) and difficulty feeding, which leads to poor growth overall.[ghr.nlm.nih.gov]

  • Dandy-Walker Syndrome

    Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, agenesis of corpus callosum and hydrocephalus.[ncbi.nlm.nih.gov] […] cerebellar vermis and fourth ventricle.[ 3 ] Infants with DWM may present with early signs such as vomiting, sleepiness, irritability, convulsions, unsteadiness and lack of muscle[ncbi.nlm.nih.gov] We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy-Walker syndrome and agenesis of the corpus callosum.[ncbi.nlm.nih.gov]

  • Aicardi's Syndrome

    Other features of Aicardi syndrome may include a small head (microcephaly), decreased muscle tone (axial hypotonia), missing eyes (anophthalmia), gastrointestinal difficulties[diseaseinfosearch.org] Aicardi's syndrome, which is characterized by agenesis of the corpus callosum, specific chorioretinal abnormalities, and defects of vertebrae and ribs, is considered a probable[ncbi.nlm.nih.gov] […] or “low muscle tone” is most common).[infantilespasmsproject.org]

  • Acrocallosal Syndrome

    Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia).[diseaseinfosearch.org] The diagnosis of acrocallosal syndrome was arrived at after neuroimaging showed agenesis of corpus callosum with interhemispheric cysts.[ncbi.nlm.nih.gov] Decreased muscle tone Low muscle tone [ more ] 0001290 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypoplasia of teeth 0000685 Intellectual disability[rarediseases.info.nih.gov]

  • Marshall-Smith Syndrome

    Other symptoms include diminished muscle tone (hypotonia), muscle weakness, hernias in the abdomen (umbilical hernias), and/or mental retardation.[rarediseases.org] We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the corpus callosum, but has no respiratory problems so far.[ncbi.nlm.nih.gov]

  • Lenz-Majewski Syndrome

    […] of corpus callosum 0001274 Bifid uvula 0000193 External genital hypoplasia Underdevelopment of external reproductive organs 0003241 High, narrow palate Narrow, high-arched[rarediseases.info.nih.gov] Hypotonia Bones And Joints Hyperostosis Diaphyseal Undermodeling Of Long Bones Thickening Of Midshaft Cortices Hypoostosis Of Metaphyses And Epiphyses Related: L[neo-genetics.com] […] lips Prominent lips Thick lips [ more ] 0012471 Wide mouth Broad mouth Large mouth [ more ] 0000154 5%-29% of people have these symptoms Absent septum pellucidum 0001331 Agenesis[rarediseases.info.nih.gov]

  • Roifman Syndrome

    Patients with Roifman syndrome have been noted to be short in stature with the following features: Condensed trunk area Limited hip movement Diminished muscle tone (hypotonia[maxcachiafund.org] The MRI revealed partial agenesis of the corpus callosum, bilateral hypoplastic hippocampi but bilaterally intact amygdala.[ncbi.nlm.nih.gov] […] tone ( hypotonia ).[en.wikipedia.org]

  • Infantile Neuroaxonal Dystrophy

    A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have[ncbi.nlm.nih.gov] A computed tomography scan of the head revealed agenesis of the corpus callosum. She died at the age of 9 months.[ncbi.nlm.nih.gov] The patient was a boy with negative family history who showed progressive neurologic symptoms (deviation of bulbi, muscle hypotonia and quadruplegia in flexion) soon after[semanticscholar.org]

  • Spondylometaphyseal Dysplasia

    […] of the corpus callosum.[ncbi.nlm.nih.gov] Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum,[malacards.org] Half of infants with SMDS are reported to have central nervous system (CNS) malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum[genome.jp]

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