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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.[ncbi.nlm.nih.gov] Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual[hon.ch] The bulk of clinical signs will be noted in the central nervous system with significant signs of cerebellar dysfunction, such as ataxia and nystagmus.[symptoma.com]

  • 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.[link.springer.com] See-saw nystagmus and congenital nystagmus identified in the non-decussating retinal-fugal fiber syndrome.[ajnr.org] […] of the corpus callosum, dysplasia of the anterior third ventricle, and anomalies of the hypothalamic-pituitary axis.[eye.com.ph]

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

  • 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[advancedradteaching.com] Conversely, early developmental disturbances of vision often disrupt ocular motor control systems, giving rise to complex disorders such as nystagmus, strabismus, and torticollis[books.google.de] MGDA can be isolated or associated with other ocular anomalies in the same or contralateral eye (nystagmus, cataract, microphthalmia, glaucoma, coloboma of the crystalline[orpha.net]

  • Oculomotor Apraxia

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

  • Infantile Neuroaxonal Dystrophy

    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] 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[ncbi.nlm.nih.gov] (OMIM phenotype number #600329 ) Osteopetrosis and infantile neuroaxonal dystrophy is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and[iofbonehealth.org]

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

  • 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.[ncbi.nlm.nih.gov] Tonic seizure started clinically with a scream (vertical arrow) and episodic nystagmus (oblique arrows shows EM artefacts).[slideshare.net] […] of the corpus callosum 14722918 CACNA1A Epileptic encephalopathy, hemiplegic migraine 11342703 CDKL5 Severe early onset epileptic encephalopathy - usually girls, boys even[tests.labmed.washington.edu]

  • 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.[ncbi.nlm.nih.gov] The authors present the case of a 9-year-old girl with dorsal midbrain syndrome causing convergence retraction nystagmus.[ncbi.nlm.nih.gov] Less common: Agenesis of the corpus callosum and lesions in the basal ganglia, cerebelum, and brain stem. Also: growth delay, hypotonia, seizures, and polyneuropathy.[umdf.org]

  • Mowat-Wilson Syndrome

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

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