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1,463 Possible Causes for Agenesis of Corpus Callosum, Nystagmus

  • Dandy-Walker Syndrome

    Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, agenesis of corpus callosum and hydrocephalus.[] Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual[] The bulk of clinical signs will be noted in the central nervous system with significant signs of cerebellar dysfunction, such as ataxia and nystagmus.[]

  • Isolated optic nerve hypoplasia

    Tang PH, Bartha AI, Norton ME et al (2009) Agenesis of corpus callosum: an MR imaging analysis of associated abnormalities in the fetus.[] See-saw nystagmus and congenital nystagmus identified in the non-decussating retinal-fugal fiber syndrome.[] […] of the corpus callosum, dysplasia of the anterior third ventricle, and anomalies of the hypothalamic-pituitary axis.[]

  • 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.[] A four-year-old female presented with monocular nystagmus and temporal optic disc pallor in her left eye.[] In a discrete number of cases, schizencephaly, agenesis of the corpus callosum or other cortical malformations are associated (SOD-plus).[]

  • Congenital Optic Disc Coloboma

    Morning glory disc is associated with coloboma-renal sysndrome, trisomy 4q, optic nerve hypolasia and poor vision, midline intracranial malformations (agenesis of the corpus[] Conversely, early developmental disturbances of vision often disrupt ocular motor control systems, giving rise to complex disorders such as nystagmus, strabismus, and torticollis[] MGDA can be isolated or associated with other ocular anomalies in the same or contralateral eye (nystagmus, cataract, microphthalmia, glaucoma, coloboma of the crystalline[]

  • Oculomotor Apraxia

    These include agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly[] The reading scan was disturbed by saccadic intrusions and/or nystagmus.[] MRI is normal or may reveal agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, and brainstem dysgenesis.[]

  • Infantile Neuroaxonal Dystrophy

    A computed tomography scan of the head revealed agenesis of the corpus callosum. She died at the age of 9 months.[] Although nystagmus is a well-established neurological sign in infantile neuroaxonal dystrophy, it is mainly described as pendular and noticed in later stages of the disease[] (OMIM phenotype number #600329 ) Osteopetrosis and infantile neuroaxonal dystrophy is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and[]

  • 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[] Microcephalic Primordial Dwarfism Due To Znf335 Deficiency Orofaciodigital Syndrome I Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 9 A, Autosomal Dominant Tremor , Nystagmus[] Of The Corpus Callosum With Peripheral Neuropathy ... ...[]

  • Early Infantile Epileptic Encephalopathy Type 3

    Distinguishing features include agenesis of the corpus callosum in patient 1, and weight loss exceeding 10%, associated with metabolic acidosis, in patient 2.[] Tonic seizure started clinically with a scream (vertical arrow) and episodic nystagmus (oblique arrows shows EM artefacts).[] […] of the corpus callosum 14722918 CACNA1A Epileptic encephalopathy, hemiplegic migraine 11342703 CDKL5 Severe early onset epileptic encephalopathy - usually girls, boys even[]

  • Leigh's Disease

    In the other case, there was an agenesis of the corpus callosum, the second instance in which a malformation of the corpus callosum was associated with this condition.[] The authors present the case of a 9-year-old girl with dorsal midbrain syndrome causing convergence retraction nystagmus.[] Less common: Agenesis of the corpus callosum and lesions in the basal ganglia, cerebelum, and brain stem. Also: growth delay, hypotonia, seizures, and polyneuropathy.[]

  • Mowat-Wilson Syndrome

    […] of the corpus callosum.[] […] more ] 0000086 Finger syndactyly 0006101 Hallux valgus Bunion 0001822 Hydronephrosis 0000126 Iris coloboma Cat eye 0000612 Microphthalmia Abnormally small eyeball 0000568 Nystagmus[] 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[]

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