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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly"
Page 1
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ. Smith A, et al. J Med Genet. 1996 Feb;33(2):107-12. doi: 10.1136/jmg.33.2.107. J Med Genet. 1996. PMID: 8929945 Free PMC article. Review.
Short stature was not invariable, 5/26 (19%) were on or above the 50th centile. Hypotonia at birth was recorded in 15/24 (63%) and neonatal feeding difficulties were recorded in 20/26 (77%). ...
Short stature was not invariable, 5/26 (19%) were on or above the 50th centile. Hypotonia at birth was recorded in 15/24 (63%) and ne …
Clinical spectrum associated with cerebellar hypoplasia.
Wassmer E, Davies P, Whitehouse WP, Green SH. Wassmer E, et al. Pediatr Neurol. 2003 May;28(5):347-51. doi: 10.1016/s0887-8994(03)00016-x. Pediatr Neurol. 2003. PMID: 12878295
Statistically significant clinical features of children with cerebellar hypoplasia compared with those without were development and speech delay, microcephaly, abnormal movements, ataxia and impaired coordination, autistic features, hypotonia, and ocular sign …
Statistically significant clinical features of children with cerebellar hypoplasia compared with those without were development and speech d …
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Huemer M, et al. J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30. J Inherit Metab Dis. 2016. PMID: 26025547 Free PMC article.
Patients with very low (<1.5%) mean control values of enzyme activity (n = 14) presented earlier and with a pattern of feeding problems, encephalopathy, muscular hypotonia, neurocognitive impairment, apnoea, hydrocephalus, microcephaly and epilepsy. ...During the …
Patients with very low (<1.5%) mean control values of enzyme activity (n = 14) presented earlier and with a pattern of feeding problems, …
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
Carraro M, Monzon AM, Chiricosta L, Reggiani F, Aspromonte MC, Bellini M, Pagel K, Jiang Y, Radivojac P, Kundu K, Pal LR, Yin Y, Limongelli I, Andreoletti G, Moult J, Wilson SJ, Katsonis P, Lichtarge O, Chen J, Wang Y, Hu Z, Brenner SE, Ferrari C, Murgia A, Tosatto SCE, Leonardi E. Carraro M, et al. Hum Mutat. 2019 Sep;40(9):1330-1345. doi: 10.1002/humu.23823. Epub 2019 Jul 3. Hum Mutat. 2019. PMID: 31144778 Free PMC article.
ID, autism, epilepsy, microcephaly, macrocephaly, hypotonia, ataxia) have been made available for this challenge. ...Since neurodevelopmental disorders are characterized by strong comorbidity, tested individuals often present more than one patho …
ID, autism, epilepsy, microcephaly, macrocephaly, hypotonia, ataxia) have been made available for this challenge. ...Si …
Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up.
Ozgen HM, Overweg-Plandsoen WC, Blees-Pelk J, Besselaar PP, Hennekam RC. Ozgen HM, et al. Am J Med Genet A. 2005 Apr 15;134A(2):215-9. doi: 10.1002/ajmg.a.30589. Am J Med Genet A. 2005. PMID: 15672385 Review.
Cerebellar hypoplasia with endosteal sclerosis is an infrequent entity that has been described in only four cases. Major clinical symptoms are cerebellar hypoplasia causing ataxia, hypotonia, mild to moderate developmental delay, microcephaly, growth retardat …
Cerebellar hypoplasia with endosteal sclerosis is an infrequent entity that has been described in only four cases. Major clinical symptoms a …