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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 52"
Page 1
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F. Bohlega S, et al. Parkinsonism Relat Disord. 2019 Dec;69:99-103. doi: 10.1016/j.parkreldis.2019.10.007. Epub 2019 Oct 13. Parkinsonism Relat Disord. 2019. PMID: 31726291
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disease with characteristic neuro-endocrine manifestations. ...Dystonia was the most common neurological manifestation (67%), followed by intellectual disability (45%) and sensor …
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disease with characteristic neuro-endocrine manifest …
Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients.
Kong W, Meng Y, Zou L, Yang G, Wang J, Shi X. Kong W, et al. J Pediatr Endocrinol Metab. 2020 May 24;33(6):793-802. doi: 10.1515/jpem-2019-0505. J Pediatr Endocrinol Metab. 2020. PMID: 32447333
Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. ...Results Among the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech d …
Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is …
Enlarged vestibular aqueducts and other inner-ear abnormalities in patients with Down syndrome.
Clark CM, Patel HH, Kanekar SG, Isildak H. Clark CM, et al. J Laryngol Otol. 2017 Apr;131(4):298-302. doi: 10.1017/S0022215116009786. Epub 2016 Dec 28. J Laryngol Otol. 2017. PMID: 28027715
RESULTS: Inner-ear anomalies were identified in 20 of the 38 individuals (52.6 per cent). Seven of the 75 temporal bones (9.3 per cent) were found to have higher than previously reported. ...
RESULTS: Inner-ear anomalies were identified in 20 of the 38 individuals (52.6 per cent). Seven of the 75 temporal bones (9.3 per cen …
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M. Corbett MA, et al. J Med Genet. 2015 Apr;52(4):269-74. doi: 10.1136/jmedgenet-2014-102418. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612912
BACKGROUND: Trichothiodystrophy (TTD) is a group of rare autosomal recessive disorders that variably affect a wide range of organs derived from the neuroectoderm. ...PATIENTS AND METHODS: We describe two male cousins affected by TTD associated with microcephaly, pro …
BACKGROUND: Trichothiodystrophy (TTD) is a group of rare autosomal recessive disorders that variably affect a wide range of or …
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
Yanagisawa A, Bouchet C, Quijano-Roy S, Vuillaumier-Barrot S, Clarke N, Odent S, Rodriguez D, Romero NB, Osawa M, Endo T, Taratuto AL, Seta N, Guicheney P. Yanagisawa A, et al. Eur J Med Genet. 2009 Jul-Aug;52(4):201-6. doi: 10.1016/j.ejmg.2008.12.004. Epub 2008 Dec 27. Eur J Med Genet. 2009. PMID: 19138766
BACKGROUND: Alpha-dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) with autosomal recessive inheritance characterized by abnormal glycosylation of alpha-dystroglycan. ...
BACKGROUND: Alpha-dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) with autosomal recessive inherita …