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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 18"
Page 1
Prevalence of propionic acidemia in China.
Zhang Y, Peng C, Wang L, Chen S, Wang J, Tian Z, Wang C, Chen X, Zhu S, Zhang GF, Wang Y. Zhang Y, et al. Orphanet J Rare Dis. 2023 Sep 9;18(1):281. doi: 10.1186/s13023-023-02898-w. Orphanet J Rare Dis. 2023. PMID: 37689673 Free PMC article. Review.
Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. ...Early-onset PA can lead to acute deterioration, metabolic acidosis, and hyperammonemia shortly after birth, which can result in high mortality …
Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. ...Ear …
NGLY1 deficiency: a prospective natural history study.
Tong S, Ventola P, Frater CH, Klotz J, Phillips JM, Muppidi S, Dwight SS, Mueller WF, Beahm BJ, Wilsey M, Lee KJ. Tong S, et al. Hum Mol Genet. 2023 Sep 5;32(18):2787-2796. doi: 10.1093/hmg/ddad106. Hum Mol Genet. 2023. PMID: 37379343 Free PMC article.
N-glycanase 1 (NGLY1) deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic enzyme that deglycosylates other proteins. It is characterized by severe global developmental delay and/or intellectual …
N-glycanase 1 (NGLY1) deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY …
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.
Donoghue SE, Pitt JJ, Boneh A, White SM. Donoghue SE, et al. J Pediatr Endocrinol Metab. 2018 Mar 28;31(4):451-459. doi: 10.1515/jpem-2017-0501. J Pediatr Endocrinol Metab. 2018. PMID: 29455191 Free article.
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that result in reduced cholesterol biosynthesis. ...Patients with cholesterol levels 1.7 mmol/L had milder features and were diagnosed at 9 months …
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that re …
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
Dystonia was the most common neurological manifestation (67%), followed by intellectual disability (45%) and sensorineural hearing loss (30%). Based on the Neurological Impairment Scale (NIS), the disease was recognized to have two distinct patterns. ...The mean age …
Dystonia was the most common neurological manifestation (67%), followed by intellectual disability (45%) and sensorineural hea …
A newly recognized autosomal recessive syndrome affecting neurologic function and vision.
Salih MA, Tzschach A, Oystreck DT, Hassan HH, AlDrees A, Elmalik SA, El Khashab HY, Wienker TF, Abu-Amero KK, Bosley TM. Salih MA, et al. Am J Med Genet A. 2013 Jun;161A(6):1207-13. doi: 10.1002/ajmg.a.35850. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633300
Genetic factors represent an important etiologic group in the causation of intellectual disability. We describe a Saudi Arabian family with closley related parents in which four of six children were affected by a congenital cognitive disturbance. ...A potentially de …
Genetic factors represent an important etiologic group in the causation of intellectual disability. We describe a Saudi Arabia …
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 …
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ. Willemsen MA, et al. Brain. 2001 Jul;124(Pt 7):1426-37. doi: 10.1093/brain/124.7.1426. Brain. 2001. PMID: 11408337 Review.
Sjogren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH). ...The diagnosis of SLS was confirmed by demonstration of the enzyme defect in cultured …
Sjogren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of the mic …
A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development.
Zaka A, Shahzad S, Rao HZ, Hashim Y, Basit S. Zaka A, et al. Am J Med Genet A. 2021 Feb;185(2):355-361. doi: 10.1002/ajmg.a.61952. Epub 2020 Nov 3. Am J Med Genet A. 2021. PMID: 33141514
Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development (HGPPS2) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements, and progressive scoliosis developing in childhood and adolescence. ...Sanger Seq …
Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development (HGPPS2) is a rare congenital disorder char …
Severe congenital microcephaly with AP4M1 mutation, a case report.
Duerinckx S, Verhelst H, Perazzolo C, David P, Desmyter L, Pirson I, Abramowicz M. Duerinckx S, et al. BMC Med Genet. 2017 May 2;18(1):48. doi: 10.1186/s12881-017-0412-9. BMC Med Genet. 2017. PMID: 28464862 Free PMC article.
BACKGROUND: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly o …
BACKGROUND: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are char …
Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation.
Khattak NA, Mir A. Khattak NA, et al. CNS Neurol Disord Drug Targets. 2014;13(4):699-711. doi: 10.2174/18715273113129990105. CNS Neurol Disord Drug Targets. 2014. PMID: 24040793
Mental retardation (MR)/ intellectual disability (ID) is a neuro-developmental disorder characterized by a low intellectual quotient (IQ) and deficits in adaptive behavior related to everyday life tasks such as delayed language acquisition, social skills or s …
Mental retardation (MR)/ intellectual disability (ID) is a neuro-developmental disorder characterized by a low intellectual …
23 results