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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 13"
Page 1
Phenylalanine hydroxylase deficiency.
Mitchell JJ, Trakadis YJ, Scriver CR. Mitchell JJ, et al. Genet Med. 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. Genet Med. 2011. PMID: 21555948 Free article. Review.
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. ...Classic phenylketonuria is caused by a complete or near-complete deficiency of phenylalanine hydro …
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of t …
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
Stelten BML, Bonnot O, Huidekoper HH, van Spronsen FJ, van Hasselt PM, Kluijtmans LAJ, Wevers RA, Verrips A. Stelten BML, et al. J Inherit Metab Dis. 2018 Jul;41(4):641-646. doi: 10.1007/s10545-017-0086-7. Epub 2017 Sep 11. J Inherit Metab Dis. 2018. PMID: 28894950
The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. ...Metabolic screening for CTX should be performed in patients with ASD when accompanied by diarrhea, intellectual disability, juvenile …
The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. ...Metabo …
The neurology of carbonic anhydrase type II deficiency syndrome.
Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK. Bosley TM, et al. Brain. 2011 Dec;134(Pt 12):3502-15. doi: 10.1093/brain/awr302. Epub 2011 Nov 26. Brain. 2011. PMID: 22120147
Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubular acidosis and brain calcifications. ...However, the overall phenotype of the disorder in this group of patients was …
Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including ost …
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J. Matern D, et al. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. Pediatrics. 2003. PMID: 12837870 Review.
OBJECTIVE: 2-methylbutyryl-CoA dehydrogenase deficiency, also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a recently described autosomal recessive disorder of L-isoleucine metabolism. Only 4 affected individuals in 2 families have bee …
OBJECTIVE: 2-methylbutyryl-CoA dehydrogenase deficiency, also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a …
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S. Nasser H, et al. J Med Genet. 2020 Jun;57(6):389-399. doi: 10.1136/jmedgenet-2019-106474. Epub 2020 Feb 3. J Med Genet. 2020. PMID: 32015000 Clinical Trial.
BACKGROUND: Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. Despite the identification of >25 causal genes so far, it r …
BACKGROUND: Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting c …
Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports.
Wang C, Zhang X, Guo S, Sun J, Li N. Wang C, et al. J Med Case Rep. 2017 Aug 25;11(1):247. doi: 10.1186/s13256-017-1406-0. J Med Case Rep. 2017. PMID: 28838318 Free PMC article.
BACKGROUND: Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by hyperpyrexia, anhidrosis, pain insensitivity, self-inflicted injuries, and intellectual disability. ...CASE PRESENTATION: Two 3-year-ol …
BACKGROUND: Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by hyperpyre …
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J. Gagnon C, et al. Orphanet J Rare Dis. 2018 Sep 19;13(1):165. doi: 10.1186/s13023-018-0898-z. Orphanet J Rare Dis. 2018. PMID: 30231904 Free PMC article.
BACKGROUND: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a recessive neurological disorder with cerebellar, pyramidal and neuropathic features. Natural history data are urgently needed to increase trial readiness. This study ai …
BACKGROUND: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a recessive neurological disorder wit …
Familial occurrence of idiopathic infantile hypercalcemia.
McTaggart SJ, Craig J, MacMillan J, Burke JR. McTaggart SJ, et al. Pediatr Nephrol. 1999 Oct;13(8):668-71. doi: 10.1007/s004670050678. Pediatr Nephrol. 1999. PMID: 10502124
This report describes a family with two siblings with IIH. The pedigree is consistent with autosomal recessive inheritance, but more complex inheritance is suggested by the occurrence of hypercalciuria in a number of family members. ...
This report describes a family with two siblings with IIH. The pedigree is consistent with autosomal recessive inheritance, bu …
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
Desai V, Donsante A, Swoboda KJ, Martensen M, Thompson J, Kaler SG. Desai V, et al. Clin Genet. 2011 Feb;79(2):176-82. doi: 10.1111/j.1399-0004.2010.01451.x. Clin Genet. 2011. PMID: 20497190 Free PMC article.
Classical Menkes disease is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A, which is located at Xq13.1-q21. ...With rare exceptions involving sex chromosome aneuploidy or X-autosome translocations, female carriers of ATP7A mutations ar …
Classical Menkes disease is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A, which is located at Xq13.1 …
Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene.
Verhoeven WMA, Egger JIM, Janssen PKC, van Haeringen A. Verhoeven WMA, et al. BMJ Case Rep. 2020 Dec 12;13(12):e235972. doi: 10.1136/bcr-2020-235972. BMJ Case Rep. 2020. PMID: 33310825 Free PMC article.
Recently, seven members of two unrelated consanguineous families have been reported in whom two different missense HNMT mutations were identified. All showed severe intellectual disability, delayed speech development and mild regression from the age of 5 years witho …
Recently, seven members of two unrelated consanguineous families have been reported in whom two different missense HNMT mutations were ident …