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Longer titles found: 17q12 microdeletion syndrome (view), 3q29 microdeletion syndrome (view), 2p15-16.1 microdeletion syndrome (view)

searching for Microdeletion syndrome 22 found (70 total)

alternate case: microdeletion syndrome

Witteveen–Kolk syndrome (213 words) [view diff] exact match in snippet view article find links to article

Witteveen–Kolk syndrome, also known as WITKOS and 15q24 microdeletion syndrome, is a rare neurodevelopmental disorder characterized by developmental delay/intellectual

2q37 deletion syndrome (603 words) [view diff] case mismatch in snippet view article find links to article

May 2007). "2q37 Microdeletion Syndrome: In GeneReviews – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". 2q37 Microdeletion Syndrome. University of Washington

SATB2 (1,665 words) [view diff] exact match in snippet view article find links to article

causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. SATB2 was found to be disrupted in two unrelated cases with de

PURA syndrome (743 words) [view diff] exact match in snippet view article find links to article

profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome". American Journal of Human Genetics. 95 (5): 579–583. doi:10.1016/j

Ankyrin repeat domain 11 (632 words) [view diff] exact match in snippet view article find links to article

for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome". Eur. J. Hum. Genet. 18 (4): 429–35. doi:10.1038/ejhg.2009.192

Silver–Russell syndrome (1,419 words) [view diff] exact match in snippet view article find links to article

with similar clinical features such as Temple syndrome and 12q14 microdeletion syndrome. In 2017, an international consensus was published – detailing the

Developmental verbal dyspraxia (2,423 words) [view diff] exact match in snippet view article find links to article

as other genetic issues could explain DVD/CAS. including 16p11.2 microdeletion syndrome. New research suggests a role for the sodium channel SCN3A in the

SNX13 (429 words) [view diff] exact match in snippet view article find links to article

characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region". Cytogenetic and Genome Research. 97 (3–4): 167–70

8p23.1 duplication syndrome (779 words) [view diff] exact match in snippet view article find links to article

distal ORDRs. NAHR is also thought to give rise to the reciprocal microdeletion syndrome, the polymorphic inversion between the ORDRs and a variety of other

C12orf66 (1,313 words) [view diff] exact match in snippet view article find links to article

A; Iremonger, James; Murray, Caroline M (2017-05-02). "The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth". European

UTP6 (607 words) [view diff] exact match in snippet view article find links to article

interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients". Cell Death Differ. 14 (6): 1222–33. doi:10.1038/sj.cdd

SETD5 (258 words) [view diff] exact match in snippet view article find links to article

loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. American Journal

Low anterior hairline (323 words) [view diff] exact match in snippet view article find links to article

hairline is seen in the following conditions and syndromes: 8q22.1 microdeletion syndrome Adams-Oliver syndrome 2 Agenesis of the corpus callosum with peripheral

Hypoparathyroidism (1,629 words) [view diff] exact match in snippet view article find links to article

parathyroid glands is one of the components of chromosome 22q11 microdeletion syndrome (other names: DiGeorge syndrome, Schprintzen syndrome, velocardiofacial

DECIPHER (1,486 words) [view diff] exact match in snippet view article find links to article

duplications across this region. The region shown encompasses the segment of chromosome missing in patients with 17q21.3 recurrent microdeletion syndrome.

Methyl-cpg binding domain protein 5 (752 words) [view diff] exact match in snippet view article find links to article

Shen Y, Repnikova EA, et al. (October 2011). "Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability

Glial fibrillary acidic protein (3,268 words) [view diff] exact match in snippet view article find links to article

is linked with old age and the onset of AD pathology. 17q21.31 microdeletion syndrome (Koolen–de Vries syndrome) GFAP stain GRCh38: Ensembl release 89:

Fryns syndrome (3,080 words) [view diff] no match in snippet view article find links to article

GS (July 1990). "Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair?". Am. J. Med. Genet. 36 (3): 363–4. doi:10.1002/ajmg.1320360327

C3orf70 (1,187 words) [view diff] exact match in snippet view article find links to article

Wright M, Forzano F (2014). "3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?". Eur J Med Genet. 57 (2–3). European Journal of Medical Genetics:

Burnside–Butler syndrome (640 words) [view diff] case mismatch in snippet view article find links to article

Devin M.; Butler, Merlin G. (2015-02-13). "The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review". International Journal of Molecular Sciences. 16 (2):

ZG16 (2,023 words) [view diff] exact match in snippet view article find links to article

MalaCards-Human Disease Database. Retrieved 2023-11-27. "Proximal 16p11.2 microdeletion syndrome - About the Disease - Genetic and Rare Diseases Information Center"

List of conditions with craniosynostosis (2,779 words) [view diff] exact match in snippet view article find links to article

C0796032)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06. "8q22.1 microdeletion syndrome (Concept Id: C1842464)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02