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1,737 Possible Causes for Agenesis of Corpus Callosum, Mental Retardation

  • Dandy-Walker Syndrome

    Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, agenesis of corpus callosum and hydrocephalus.[] A young boy presented with mental retardation and seizures with extensive hairy naevi.[] Abstract The Dandy-Walker syndrome is said to be associated with a high incidence of mental retardation and motor dysfunction leading some to suggest termination of the affected[]

  • Acrocallosal Syndrome

    The diagnosis of acrocallosal syndrome was arrived at after neuroimaging showed agenesis of corpus callosum with interhemispheric cysts.[] Acrocallosal syndrome (ACS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies[] Jump to search syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental[]

  • Septo-Optic Dysplasia

    An uncommon association of infantile spasms, septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst is described in a child.[] Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.[] In a discrete number of cases, schizencephaly, agenesis of the corpus callosum or other cortical malformations are associated (SOD-plus).[]

  • Mowat-Wilson Syndrome

    […] of the corpus callosum.[] retardation.[] Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with "syndromic Hirschsprung disease" with mental retardation (MR) and multiple congenital anomalies (MCA[]

  • Fetal Warfarin Syndrome

    Associated conditions include hypoplasia of nasal bridge, laryngomalacia, pectus carinatum, congenital heart defects, ventriculomegaly, agenesis of the corpus callosum, stippled[] retardation Skeletal Severe rhizomelia Stippling disappears after the first year Stippling of uncalcified epiphyses particularly of axial skeleton (vertebrae and pelvis)[] […] of corpus callosum microcephaly microphthalmia congenital cataracts cardiovascular congenital cardiac anomalies Warfarin is a teratogenic drug.[]

  • Aicardi's Syndrome

    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[] Common manifestations are seizures, mental retardation and lesions on the retina.[] Abstract Aicardi's syndrome is the association of three main features: infantile spasms, chorioretinopathia with lacunae and agenesis of the corpus callosum.[]

  • Patau Syndrome

    . * Agenesis of the Corpus Callosum * Enlarged Cisterna Magna. * Microcephaly. * Meningocele / encephalocele.[] Survivors suffer from severe mental retardation and health problems all their lives.[] […] of the corpus callosum persistent stapedial artery 5 retinal dysplasia 3 spinal anomalies spina bifida intrauterine growth restriction (IUGR) : tends to be early abnormal[]

  • Lissencephaly

    MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum.[] We generated three types of mice with knocked-in ARX mutations associated with X-linked lissencephaly (P353R) and mental retardation [P353L and 333ins(GCG)7].[] MRI disclosed cerebral agyria, hypoplastic cerebral mantle and posterior agenesis of the corpus callosum. The propositus, a boy, died soon after birth at term.[]

  • Aprosencephaly and Cerebellar Dysgenesis

    Disorders of Midline Prosencephalic Development: Agenesis of Corpus Callosum Anomalous development of the 3 telencephalic commissures (corpus callosum, anterior commissure[] Mental Retardation 11 (Mrx11, Xlmr11) X-Linked Mental Retardation 12 (Mrx12, Xlmr12) X-Linked Mental Retardation 13 (Mrx13, Xlmr13) X-Linked Mental Retardation 14 (Mrx14,[] What do you get when there is a complete or partial absence of the corpus callosum? Agenesis of the corpus callosum WHEN DOES AGENESIS OF CORPUS CALLOSUM OCCUR?[]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    […] of the corpus callosum Hypermetropia Lissencephaly Heterotopia Pachygyria Sloping forehead Polymicrogyria Agenesis of corpus callosum Abnormal facial shape Coarctation of[] Retardation , Autosomal Dominant 20 Mental Retardation , Autosomal Dominant 35 Mental Retardation , Autosomal Dominant 36 Mental Retardation , X-Linked 102 Mental Retardation[] retardation 105 300984 300975 X-linked recessive USP9X Xp11.4 Mental retardation, X-linked 99 300919 300072 X-linked recessive USP9X Xp11.4 Mental retardation, X-linked 99[]

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