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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 46"
Page 1
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
Twenty of 26 were classified as developmental and epileptic encephalopathy (DEE): 55% (11/20) focal DEE, 30% (6/20) generalized DEE, and 15% (3/20) combined DEE. Six had intellectual disability and epilepsy (ID+E): two generalized and four focal epilepsy. ...Twenty- …
Twenty of 26 were classified as developmental and epileptic encephalopathy (DEE): 55% (11/20) focal DEE, 30% (6/20) generalized DEE, and 15% …
A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family.
Qu R, Sang Q, Wang X, Xu Y, Chen B, Mu J, Zhang Z, Jin L, He L, Wang L. Qu R, et al. Ann Hum Genet. 2020 Jan;84(1):46-53. doi: 10.1111/ahg.12349. Epub 2019 Sep 8. Ann Hum Genet. 2020. PMID: 31495922
Intellectual disability (ID) describes a wide range of serious human diseases caused by defects in central nervous system development and function. ...Before the present study, no links between mutations in CMAS and incidences of human ID had been reported. In the c …
Intellectual disability (ID) describes a wide range of serious human diseases caused by defects in central nervous system deve …
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V. Manti F, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. doi: 10.1016/j.ymgme.2020.06.009. Epub 2020 Jun 24. Mol Genet Metab. 2020. PMID: 32651154
INTRODUCTION: 6-Pyruvoyl-tetrahydropterin synthase deficiency (PTPSd) is a rare autosomal recessive disorder of synthesis of biogenic amines, which is characterized by variable neurological impairment and hyperphenylalaninemia. ...At the last examination, 43% of pat …
INTRODUCTION: 6-Pyruvoyl-tetrahydropterin synthase deficiency (PTPSd) is a rare autosomal recessive disorder of synthesis of b …
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. ...Variability of brain calcification, cognitive disturbance and optic nerve in …
Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including ost …
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S. Tory K, et al. J Am Soc Nephrol. 2007 May;18(5):1566-75. doi: 10.1681/ASN.2006101164. Epub 2007 Apr 4. J Am Soc Nephrol. 2007. PMID: 17409309
Joubert syndrome (JS) is an autosomal recessive disorder that is described in patients with cerebellar ataxia, mental retardation, hypotonia, and neonatal respiratory dysregulation. ...Furthermore, five patients with NPHP1 mutations carried the AHI1 variant R830W, w …
Joubert syndrome (JS) is an autosomal recessive disorder that is described in patients with cerebellar ataxia, mental retardat …
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.
Halevy A, Basel-Vanagaite L, Shuper A, Helman S, Har-Zahav A, Birk E, Maya I, Kornreich L, Inbar D, Nürnberg G, Nürnberg P, Steinberg T, Straussberg R. Halevy A, et al. Pediatr Neurol. 2012 Jun;46(6):363-8. doi: 10.1016/j.pediatrneurol.2012.03.014. Pediatr Neurol. 2012. PMID: 22633631
We describe four patients from three consanguineous families of Arab Bedouin origin who presented with autosomal recessive inheritance of progressive microcephaly, spasticity, thin corpus callosum, pyramidal signs, and intellectual disability. Homozygo …
We describe four patients from three consanguineous families of Arab Bedouin origin who presented with autosomal recessive inh …
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.
Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, Ohba C, Saitsu H, Matsumoto N, Haginoya K. Inui T, et al. J Hum Genet. 2017 Jun;62(6):653-655. doi: 10.1038/jhg.2017.11. Epub 2017 Feb 2. J Hum Genet. 2017. PMID: 28148925
It is characterized by intellectual disability, cataracts, delayed tooth eruption, malformed auricles and skeletal abnormalities. We performed whole-exome sequencing on a 12-year-old Japanese male with severe intellectual disability, congenital bilater …
It is characterized by intellectual disability, cataracts, delayed tooth eruption, malformed auricles and skeletal abnormaliti …
Hirsutism-skeletal dysplasia-mental retardation syndrome with abnormal face and a uric acid metabolism disorder.
Wiedemann HR, Oldigs HD, Oppermann HC, Oster O. Wiedemann HR, et al. Am J Med Genet. 1993 Jun 1;46(4):403-9. doi: 10.1002/ajmg.1320460412. Am J Med Genet. 1993. PMID: 8357012
This sporadic case may represent a new syndrome due to a fresh autosomal or X-linked mutation, or chance-isolated case due to segregation of an autosomal recessive gene....
This sporadic case may represent a new syndrome due to a fresh autosomal or X-linked mutation, or chance-isolated case due to segrega …
Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.
Wallace M, Zori RT, Alley T, Whidden E, Gray BA, Williams CA. Wallace M, et al. Am J Med Genet. 1994 May 1;50(4):368-74. doi: 10.1002/ajmg.1320500414. Am J Med Genet. 1994. PMID: 8209918
This case, as well as cytogenetic observations in other SLOS cases, suggests that SLOS could be due to autosomal recessive mutation at a gene in 7q32....
This case, as well as cytogenetic observations in other SLOS cases, suggests that SLOS could be due to autosomal recessive mut …