Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf...
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form of Seckel Syndrome noted above. Researchers also found that heterozygous mutations in ATR were responsible for causing Seckel Syndrome. Two novel...
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Primordial dwarfism (redirect from Taybi–Linder syndrome)
condition is DNA2. Mutations in this gene have been implicated in Seckel syndrome. Since primordial dwarfism disorders are extremely rare, misdiagnosis...
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Schwartz–Jampel syndrome Schöpf–Schulz–Passarge syndrome Scimitar syndrome Scott syndrome Seaver Cassidy syndrome Seckel syndrome Second-impact syndrome Secretan's...
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law historian Jos Seckel (1881–1945), Dutch painter Seckel Isaac Fränkel (1765–1835), German rabbi Seckel syndrome Hardick & Seckel Factory This page...
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respiratory infections and sinusitis. Clinical features also include Seckel syndrome-like facial abnormalities and microcephaly. Patients also have growth...
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centimeters tall (about 2 feet 4 inches). His stature was caused by Seckel syndrome. De la Rosa starred in the 1987 feature Italian horror film made in...
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syndrome Sebocystomatosis Secernentea Infections Seckel like syndrome Majoor–Krakauer type Seckel like syndrome type Buebel Seckel syndrome 2 Seckel syndrome...
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Microcephaly (redirect from Merlob syndrome)
syndrome) Single gene defects Smith–Lemli–Opitz syndrome Seckel syndrome Cornelia de Lange syndrome Dihydropteridine reductase deficiency - in up to...
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Ciliopathy Seckel syndrome "Orphanet: Stromme syndrome". www.orpha.net. Retrieved 8 December 2019. "OMIM Entry - # 243605 - STROMME SYNDROME; STROMS"....
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bifida"; terms such as Virchow's node, Virchow–Robin spaces, Virchow–Seckel syndrome, and Virchow's triad are named after him. His description of the life...
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intellectual disability. It is possible that these features were caused by Seckel syndrome. It was said Schlitzie had the mental age of a three-year-old: he was...
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muscles.[citation needed] Pseudopolycoria is often associated with Seckel syndrome, posterior polymorphous dystrophy, and juvenile glaucoma. Pseudopolycoria...
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Narrow face (section Syndromes (conditions))
delay-hypotonia syndrome Renpenning syndrome Seckel syndrome 9 Severe X-linked myotubular myopathy SIN3A-related intellectual disability syndrome due to a point...
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Hyperplasia of midface (section Syndromes (conditions))
conditions and syndromes: Craniofacial dysplasia - osteopenia syndrome Polyhydramnios, megalencephaly, and symptomatic epilepsy Seckel syndrome (NSMCE2) Troyer...
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She had a rare congenital growth skeletal disorder called Virchow-Seckel syndrome, which caused her to have a very short stature, a small head, a narrow...
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these syndromes (it is present in up to 18% of the normal population). Down syndrome Turner syndrome Aarskog syndrome Carpenter syndrome Seckel syndrome Cornelia...
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metatarsals-intellectual disability syndrome Saethre-Chotzen syndrome Scalp-ear-nipple syndrome Seckel syndrome 7 Short stature and Facioauriculothoracic...
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Koh CJ (October 2018). "Nephrolithiasis in a 17-Year-Old Male With Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature". Urology...
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Ehlers-Danlos syndrome Other complex hereditary conditions such as Usher syndrome, Seckel syndrome, Treacher-Collins syndrome, Heimler syndrome & Ellis-Van...
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Fanconi anaemia Seckel syndrome Ataxia telangiectasia Dyskeratosis congenita Hoyeraal–Hreidarsson syndrome Néstor-Guillermo progeria syndrome Targeting senescent...
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Green the Stork Woman; and Koo-Koo the Bird Girl, who had Virchow-Seckel syndrome or bird-headed dwarfism and is most remembered for the scene wherein...
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pediatrician Helmut Paul George Seckel (1900-1960), for whom the Seckel syndrome is named, and the art historian Dietrich Seckel. Beiträge zur Geschichte beider...
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Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Schwartz-Jampel syndrome type 1 Seckel syndrome 1, 2,...
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microcephalic osteodysplastic primordial dwarfism type II (MOPDII) and Seckel syndrome. PCNT is a 360 kDa protein which contains a series of coiled coil domains...
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badminton player Koo-Koo the Bird Girl, who suffered from Virchow-Seckel syndrome Koo Stark (born 1956), American film actress and photographer Koo Hye-sun...
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Pseudocholinesterase deficiency Pseudo-Zellweger syndrome Retinitis pigmentosa Romano–Ward syndrome Seckel syndrome Sensenbrenner syndrome Septo-optic dysplasia Short stature...
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including severe pre- and post-natal growth retardation, microcephaly with Seckel syndrome–like facial appearance, and distinctive skeletal alterations. Usually...
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of mental retardation without any distinctive phenotypic features. Seckel syndrome, a genetic disease characterized by low levels of ATR, results in increased...
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disorder Schizophrenia Congenital hemiplegia Moebius syndrome Seckel syndrome Wildervanck syndrome Polymicrogyria The specific molecular mechanism that...
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