Septo-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment...
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and delayed developmental outcome. ONH is often referred to as septo-optic dysplasia, a term that refers to agenesis of the septum pellucidum. It is...
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callosum down to the fornix. The septum is not present in the syndrome septo-optic dysplasia. The septum pellucidum is located in the septal area in the midline...
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dispersal syndrome Senior–Løken syndrome Sensenbrenner syndrome Septo-optic dysplasia Serkal syndrome Serotonin syndrome Serpentine fibula-polycystic...
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of such lesions termed Cytotoxic lesions of the corpus callosum. Septo-optic dysplasia Susac's syndrome characterised by lesions as small holes in the...
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an integrated circuit packaging type Septo-optic dysplasia (SOD), a congenital malformation syndrome of the optic nerve Sphincter of Oddi dysfunction (SOD)...
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deficiency congenital malformations involving the pituitary (e.g., septo-optic dysplasia, posterior pituitary ectopia) chronic kidney disease intracranial...
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and feet, coarse facial features), and if the tumor extends to the optic nerve or optic chiasm, there may be visual field defects. Headaches may also accompany...
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congenital disorders, neonatal illness Central: pituitary dysfunction (idiopathic, septo-optic dysplasia, deficiency of PIT1, isolated TSH deficiency)...
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deficiency(in adults) PURA syndrome Prader–Willi syndrome Rett syndrome Septo-optic dysplasia (de Morsier syndrome) Snyder–Robinson syndrome (SRS) Spinal muscular...
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(Clarkson performed this with 12-year-old Sadaya Paige. Paige has Septo-optic dysplasia and appeared on Clarkson's talk show in March 2023). August 4 –...
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exercise intolerance. Other mutations have been reported to cause septo-optic dysplasia and multisystem disorders. However, mutations in BCS1L, a gene responsible...
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since-retired footballer Dwight Yorke. Harvey was found to be blind with septo-optic dysplasia. He has additionally been diagnosed as autistic and has Prader–Willi...
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Kelberman, Daniel; Dattani, Mehul Tulsidas (2007-06-21). "Genetics of septo-optic dysplasia". Pituitary. 10 (4): 393–407. doi:10.1007/s11102-007-0055-5. ISSN 1386-341X...
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malformation - Malformations in the central nervous system such as septo-optic dysplasia, agenesis of corpus callosum, empty sella syndrome, and pituitary...
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Separation anxiety disorder Sepsis Septic shock Septooptic dysplasia digital anomalies Septo-optic dysplasia Sequeiros–Sack syndrome Seres–Santamaria–Arimany–Muniz...
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conditions) Schizencephaly Sclerosis Seizures Sensory processing disorder Septo-optic dysplasia Shaken baby syndrome Shingles Shy–Drager syndrome Sjögren's syndrome...
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with a cerebral arachnoid cyst and with a form of blindness called septo-optic dysplasia. Lewis-Clack began his life education at 6 months of age at The...
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Russell–Silver Syndrome (also known as Silver–Russell Syndrome), Optic Nerve Hypoplasia, Septo Optic Dysplasia, Hypophosphatasia, and others. The MAGIC Foundation...
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Severe myoclonic epilepsy of infancy SMS Smith–Magenis syndrome SOD Septo-optic dysplasia SPD Sensory processing disorder SPS Stiff person syndrome SSPE Subacute...
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Krauss S. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nature Genetics. 1998 Jun;19(2):125-33 According...
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used a photograph of Katie Price's disabled son, who suffers from septo-optic dysplasia, a rare condition which means he is visually impaired and suffers...
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automatisms. The eponym "De Morsier's syndrome" is a synonym for septo-optic dysplasia. Les trémulations fibrillaires et la contracture rigide du cœur...
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Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia or Pickardt-Fahlbusch syndrome. GRCh38: Ensembl release 89: ENSG00000163666...
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pigmentosa Romano–Ward syndrome Seckel syndrome Sensenbrenner syndrome Septo-optic dysplasia Short stature Spinocerebellar ataxia Sucrose intolerance T-cell...
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human skin, endocrine manifestations of childhood AIDS, optic nerve hypoplasia/Septo-optic dysplasia and hypopituitarism and homocysteine metabolism. Among...
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Rare Disease Champion Award. His daughter was born blind due to septo-optic dysplasia. Her eyesight later improved after surgery. After going undrafted...
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mice display optic nerve hypoplasia (ONH), a prominent feature of septo-optic dysplasia (SOD), the same phenotype shown by treating mice prenatally with...
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475 – optic nerve injuries MeSH C10.292.700.500 – optic nerve neoplasms MeSH C10.292.700.500.500 – optic nerve glioma MeSH C10.292.700.550 – optic neuritis...
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unhappy. When his son Archie was born with a rare brain condition Septo-optic dysplasia, he underwent several operations and spent many months in hospital...
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