Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1972 1
1977 2
1981 2
1985 1
1986 1
1988 1
1993 1
1994 1
1996 2
1997 2
1998 3
1999 1
2000 1
2003 3
2006 1
2007 1
2009 1
2010 1
2011 3
2012 1
2013 3
2014 3
2015 3
2016 6
2017 3
2018 2
2019 2
2020 3
2021 6
2022 4
2023 5
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

69 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 9"
Page 1
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B. Digilio MC, et al. Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. Orphanet J Rare Dis. 2010. PMID: 20920258 Free PMC article. Review.
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. Up to now, 9 patients have been described …
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, …
Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.
Masri AT, Oweis L, Ali M, Hamamy H. Masri AT, et al. Clin Neurol Neurosurg. 2023 Jul;230:107799. doi: 10.1016/j.clineuro.2023.107799. Epub 2023 May 22. Clin Neurol Neurosurg. 2023. PMID: 37236004
AIMS: To report the diagnostic yield of clinical singleton whole exome sequencing (WES) performed among a group of Jordanian children presenting with global developmental delay /intellectual disability (GDD/ID), discuss the underlying identified genetic disorders an …
AIMS: To report the diagnostic yield of clinical singleton whole exome sequencing (WES) performed among a group of Jordanian children presen …
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Zalewski CK, Sydlowski SA, King KA, Bianconi S, Dang Do A, Porter FD, Brewer CC. Zalewski CK, et al. Am J Med Genet A. 2021 Apr;185(4):1131-1141. doi: 10.1002/ajmg.a.62087. Epub 2021 Feb 2. Am J Med Genet A. 2021. PMID: 33529473 Free PMC article.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation and intellectual disability syndrome resulting from variants in DHCR7. ...Abnormal auditory brainstem responses indicative of retrocochlear dysfunction were id …
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation and intellectual disabi …
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE. Serey-Gaut M, et al. Am J Hum Genet. 2023 Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31. Am J Hum Genet. 2023. PMID: 36724785 Free PMC article.
The TTT complex is essential for the expression, maturation, and stability of ATM and ATR in response to DNA damage. TELO2- and TTI2-related bi-allelic autosomal-recessive (AR) encephalopathies have been described in individuals with moderate to severe intellectu …
The TTT complex is essential for the expression, maturation, and stability of ATM and ATR in response to DNA damage. TELO2- and TTI2-related …
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Alikaşifoğlu M, Boduroğlu K, Utine GE. Taşkıran EZ, et al. J Intellect Disabil Res. 2021 Jun;65(6):577-588. doi: 10.1111/jir.12835. Epub 2021 Mar 19. J Intellect Disabil Res. 2021. PMID: 33739554
BACKGROUND: Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians. ...Twenty-two (75.8%) were consanguineously married; however, only 12 (41.4%) of the detected genes caused autosomal recess …
BACKGROUND: Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clini …
Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.
Tremblay M, Girard-Côté L, Brais B, Gagnon C. Tremblay M, et al. Orphanet J Rare Dis. 2022 Oct 1;17(1):369. doi: 10.1186/s13023-022-02497-1. Orphanet J Rare Dis. 2022. PMID: 36183078 Free PMC article. Review.
BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is one of the …
BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneratio …
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, Mazaheri N, Protasoni M, Johnson M, Leslie JS, Salter CG, Rawlins LE, Fasham J, Al-Maawali A, Voutsina N, Charles P, Harrold L, Keren B, Kunji ERS, Vona B, Jelodar G, Sedaghat A, Shariati G, Houlden H, Crosby AH, Prudent J, Baple EL. Tábara LC, et al. Brain. 2022 Sep 14;145(9):3095-3107. doi: 10.1093/brain/awac123. Brain. 2022. PMID: 35718349 Free PMC article.
Here, we identified biallelic variants in the transmembrane protein 63C (TMEM63C) gene, encoding a predicted osmosensitive calcium-permeable cation channel, in individuals with hereditary spastic paraplegias associated with mild intellectual disability in some, but …
Here, we identified biallelic variants in the transmembrane protein 63C (TMEM63C) gene, encoding a predicted osmosensitive calcium-permeable …
Psychiatric manifestations in cerebrotendinous xanthomatosis.
Fraidakis MJ. Fraidakis MJ. Transl Psychiatry. 2013 Sep 3;3(9):e302. doi: 10.1038/tp.2013.76. Transl Psychiatry. 2013. PMID: 24002088 Free PMC article. Review.
Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with autosomal recessive inheritance and variable clinical presentation. CTX treatment consists of chenodeoxycholic acid and must b …
Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with …
Can velmanase alfa be the next widespread potential therapy for alpha-mannosidosis?
Abdul Ghani S, Burney S, Ul Hussain H, Abdul Wahid M, Mumtaz H. Abdul Ghani S, et al. Int J Surg. 2023 Sep 1;109(9):2882-2885. doi: 10.1097/JS9.0000000000000528. Int J Surg. 2023. PMID: 37352513 Free PMC article.
Alpha-mannosidosis (AM) is an autosomal recessive lysosomal storage disorder caused by reduced activity of the enzyme alpha-mannosidase. The disease is characterized by immunodeficiency, facial and skeletal abnormalities, impaired hearing, and intellectual …
Alpha-mannosidosis (AM) is an autosomal recessive lysosomal storage disorder caused by reduced activity of the enzyme alpha-ma …
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 …
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that re …
69 results