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Quoted phrase not found in phrase index: "Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies"
Page 1
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. Glinton KE, et al. Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31. Am J Med Genet A. 2021. PMID: 33522091 Free PMC article.
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic feat …
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined pri …
Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review.
Gangaram B, Lee V, Slavotinek A. Gangaram B, et al. Am J Med Genet A. 2024 Jul;194(7):e63567. doi: 10.1002/ajmg.a.63567. Epub 2024 Feb 22. Am J Med Genet A. 2024. PMID: 38389298 Review.
Biallelic variants in the OTUD6B gene have been reported in the literature in association with an intellectual developmental disorder featuring dysmorphic facies, seizures, and distal limb abnormalities. ...However, c …
Biallelic variants in the OTUD6B gene have been reported in the literature in association with an intellectual developmental …
Hypomelanosis of ITO. A study of 76 infantile cases.
Pascual-Castroviejo I, Roche C, Martinez-Bermejo A, Arcas J, Lopez-Martin V, Tendero A, Esquiroz JL, Pascual-Pascual SI. Pascual-Castroviejo I, et al. Brain Dev. 1998 Jan;20(1):36-43. doi: 10.1016/s0387-7604(97)00097-1. Brain Dev. 1998. PMID: 9533559
Mental retardation was observed in 43 cases (57%) of whom eight (10%) showed autistic behavior; 16 (21%) were borderline and only 17 (22%) had a normal mental level (IQ > 85). Thirty-seven patients (49%) had seizures, consisting of infantile spasms in six cases (8%). Tw …
Mental retardation was observed in 43 cases (57%) of whom eight (10%) showed autistic behavior; 16 (21%) were borderline and only 17 (22%) h …