Encyclopedia
Scholarly Community
Encyclopedia
Entry
Journal
Book
Video
Image
News
About
Entry
Entry
Video
Image
Log in/Sign up
Submit
Entry
Video
Image
Subject:
All Disciplines
Arts & Humanities
Biology & Life Sciences
Business & Economics
Chemistry & Materials Science
Computer Science & Mathematics
Engineering
Environmental & Earth Sciences
Medicine & Pharmacology
Physical Sciences
Public Health & Healthcare
Social Sciences
Sort:
Hottest
Latest
Alphabetical (A-Z)
Alphabetical (Z-A)
Type:
All
Topic Review
Biography
Topic Review
22q13.3 Deletion Syndrome
22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3.
480
25 Dec 2020
Topic Review
2q37 Deletion Syndrome
2q37 deletion syndrome is a condition that can affect many parts of the body. Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. Other neurological abnormalities that are common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting and walking; and behavioral problems. About 25 percent of people with this condition have autism spectrum disorder, a developmental condition that affects communication and social interaction.
538
23 Dec 2020
Topic Review
3-Beta-Hydroxysteroid Dehydrogenase Deficiency
3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones and control salt levels in the body. People with 3β-HSD deficiency lack many of the hormones that are made in these glands. 3β-HSD deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development and maturation.
455
23 Dec 2020
Topic Review
3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are compounds that are used for energy during periods without food (fasting).
430
23 Dec 2020
Topic Review
3-hydroxyacyl-CoA Dehydrogenase Deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).
412
23 Dec 2020
Topic Review
3-M Syndrome
3-M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux.
385
23 Dec 2020
Topic Review
3-methylglutaconyl-CoA Hydratase Deficiency
3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain.
372
23 Dec 2020
Topic Review
3D Genome
The genome is the most functional part of a cell, and genomic contents are organized in a compact three-dimensional (3D) structure. The genome contains millions of nucleotide bases organized in its proper frame. Rapid development in genome sequencing and advanced microscopy techniques have enabled us to understand the 3D spatial organization of the genome. Chromosome capture methods using a ligation approach and the visualization tool of a 3D genome browser have facilitated detailed exploration of the genome.
1.5K
04 Nov 2021
Topic Review
3MC Syndrome
3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs.
503
31 Dec 2020
Topic Review
3p Deletion Syndrome
3p deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 3 is deleted in each cell. The deletion occurs at the end of the short (p) arm of the chromosome. This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features.
2.5K
23 Dec 2020
Page
of
268
Featured Entry Collections
>>
Featured Books
>>
Encyclopedia of Social Sciences
Chief Editor:
Michael McAleer
Encyclopedia of COVID-19
Chief Editor:
Stephen Bustin
Encyclopedia of Fungi
Chief Editor:
Luis V. Lopez-Llorca
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Chief Editor:
Sandro Serpa
Entry
Journal
Book
Video
Image
News
About
Log in/Sign up
New Entry
New Video
New Images
About
Terms and Conditions
Privacy Policy
Advisory Board
Contact
Partner
Feedback
Top
Feedback
×
Help Center
Browse our user manual, common Q&A, author guidelines, etc.
Rate your experience
Let us know your experience and what we could improve.
Report an error
Is something wrong? Please let us know!
Other feedback
Other feedback you would like to report.
×
Did you find what you were looking for?
Love
Like
Neutral
Dislike
Hate
0
/500
Email
Do you agree to share your valuable feedback publicly on
Encyclopedia
’s homepage?
Yes, I agree. Encyclopedia can post it.
No, I do not agree. I would not like to post my testimonial.
Webpage
Upload a screenshot
(Max file size 2MB)
Submit
Back
Close
×