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searching for X-linked intellectual disability 29 found (247 total)

alternate case: x-linked intellectual disability

Gustavson syndrome (307 words) [view diff] exact match in snippet view article find links to article

Gustavson syndrome, also known as Severe X-linked intellectual disability, Gustavson type, is a rare genetic disorder characterized by severe intellectual

Proud syndrome (495 words) [view diff] exact match in snippet view article find links to article

agenesis, epilepsy, and spasticity. It is a type of syndromic X-linked intellectual disability. The following list comprises the symptoms this disorder causes:

FGF13 (824 words) [view diff] exact match in snippet view article find links to article

with Börjeson-Forssman-Lehmann syndrome (BFLS), a syndromal X-linked intellectual disability, which suggests it may be a candidate gene for familial cases

Shroom protein family (555 words) [view diff] exact match in snippet view article find links to article

important role in vertebrate development. It is implicated in X-linked intellectual disability in humans. This protein family is based on the conservation

UBE2A (1,140 words) [view diff] exact match in snippet view article find links to article

and P53. Mutations in this gene have been associated with X-linked intellectual disability type Nascimento, also known as Nascimento syndrome. This syndrome

Early-onset parkinsonism-intellectual disability syndrome (365 words) [view diff] exact match in snippet view article find links to article

Riseley JR, et al. (December 2014). "Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology"

DNA polymerase alpha catalytic subunit (1,768 words) [view diff] exact match in snippet view article find links to article

with more profound deficiency of POLA1, with develops into X-linked intellectual disability (XLID). In a case of non-XLPDR mutations, beside of type I

Say–Meyer syndrome (1,026 words) [view diff] case mismatch in snippet view article find links to article

moderately delayed. Craniosynostosis is usually rare among the X-Linked Intellectual Disability Syndromes, but when it is present, it affects the metopic structure

OPHN1 (1,188 words) [view diff] exact match in snippet view article find links to article

bulb. Mutations in this gene are responsible for non-specific X-linked intellectual disability (previously called mental retardation). OPHN1 syndrome is a

Van Den Bosch syndrome (277 words) [view diff] case mismatch in snippet view article find links to article

; Schwartz, Charles E.; Rogers, R. Curtis (2012-07-12). Atlas of X-Linked Intellectual Disability Syndromes. OUP USA. p. 255. ISBN 978-0-19-981179-3.

B K Thelma (947 words) [view diff] case mismatch in snippet view article find links to article

population; ii) discovery of new causal genes namely MID2 for X-linked Intellectual Disability; PODXL and RIC3 genes for familial Parkinson's disease by exome

Rab (G-protein) (1,327 words) [view diff] exact match in snippet view article

malignancy. Mutations of the Rab39b protein have been linked to X-linked intellectual disability and also to a rare form of Parkinson's disease. There are approximately

Wilson–Turner syndrome (2,203 words) [view diff] exact match in snippet view article find links to article

sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face"

Zhang Xu (neuroscientist) (355 words) [view diff] exact match in snippet view article

neurons" and "that FGF13 regulated brain development and involved X-linked intellectual disability". He received the Ho Leung Ho Lee Prize for Science and Technology

Snyder–Robinson syndrome (825 words) [view diff] exact match in snippet view article find links to article

Diseases Information Center. Retrieved 20 February 2023. "X-linked intellectual disability, Snyder type". Orphanet. Retrieved 1 July 2019. Miranda, Coty

Aristaless related homeobox (979 words) [view diff] exact match in snippet view article find links to article

development. Mutation in the ARX gene are associated with X-linked intellectual disability, lissencephaly, as well as hypoglycemia (in mice). homeobox

Stocco dos Santos syndrome (396 words) [view diff] exact match in snippet view article find links to article

Stocco dos Santos syndrome Other names SDSS, X-linked intellectual disability Stocco dos Santos type Specialty Medical genetics Symptoms Ocular, muscular

MID2 (931 words) [view diff] no match in snippet view article find links to article

Vides E, Contreras E, Hodara E, et al. (January 2016). "The X-Linked-Intellectual-Disability-Associated Ubiquitin Ligase Mid2 Interacts with Astrin and

MAGED1 (1,202 words) [view diff] exact match in snippet view article find links to article

CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability". PLOS ONE. 12 (4): e0175962. Bibcode:2017PLoSO..1275962G.

HNRNPH2-related disorders (797 words) [view diff] exact match in snippet view article find links to article

hnRNPH2-related disorders Other names Bain type X-linked intellectual disability This condition is inherited in an X-linked dominant manner. Symptoms Impairments

List of genetic disorders (969 words) [view diff] exact match in snippet view article find links to article

de novo 1:50,000 Xeroderma pigmentosum 15 ERCC4 recessive X-linked intellectual disability and macroorchidism (fragile X syndrome) X X-linked spinal-bulbar

Demethylase (3,087 words) [view diff] exact match in snippet view article find links to article

the X-chromosome have also been observed in patients with X-linked intellectual disability. Depletion of KDM5C homologs in D. rerio have shown brain-patterning

Creatine transporter defect (1,777 words) [view diff] exact match in snippet view article find links to article

and developmental delay. Furthermore, a family history of X-linked intellectual disability, developmental coordination disorder, and seizures is strongly

PBDC1 (2,603 words) [view diff] case mismatch in snippet view article find links to article

Aceview Gene Annotation Stevenson RE (2000). "Alpha-Thalassemia X-Linked Intellectual Disability Syndrome". In Pagon RA, Bird TD, Dolan CR, Stephens K, Adam

Epilepsy-intellectual disability in females (4,237 words) [view diff] exact match in snippet view article find links to article

Holden KR, Rogers RC, Schwartz CE (May 2012). "Seizures and X-linked intellectual disability". European Journal of Medical Genetics. 55 (5): 307–12. doi:10

Helicase (6,919 words) [view diff] case mismatch in snippet view article find links to article

SE, Bean LJ, Gripp KW, Amemiya A (eds.). "Alpha-Thalassemia X-Linked Intellectual Disability Syndrome". GeneReviews. Seattle (WA): University of Washington

TREX complex (3,090 words) [view diff] case mismatch in snippet view article find links to article

(2015-08-06). "THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability". American Journal of Human Genetics. 97 (2): 302–310. doi:10

Epigenetics of human development (6,145 words) [view diff] case mismatch in snippet view article find links to article

US National Library of Medicine. 2008. "Alpha Thalassemia X-Linked Intellectual Disability Syndrome". Genetics Home Reference. US National Library of

History of autism (31,895 words) [view diff] exact match in snippet view article find links to article

James Martin and geneticist Julia Bell described a pedigree of X-linked intellectual disability. This would later be called Fragile X syndrome, and is now