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Survey of Human Genetic Disorders First Half

This class was created by Brainscape user Keri Ramsey. Visit their profile to learn more about the creator.

By: Keri Ramsey
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Decks in this class (16)

Newborn Screening
What percentage of infants screen...,
What percentage of nbs are false ...,
When do you collect the first nbs...
6  cards
Approach to Genetic Diagnosis
What is the age that infants star...,
What is the age that infants star...,
When does a child say their first...
4  cards
Common Malformations
What is the definition of a minor...,
What is the definition of a major...,
W
34  cards
Micro Del/Dup
How are interstitial deletions ca...,
When you have a vus microdup del ...,
What is the cause of williams syn...
25  cards
Autism
What is the prevalence of autism,
What percentage of children with ...,
What maternal medications are ass...
25  cards
Differences of Sexual Development
What teratogens affect the genito...,
If sry is present what does the b...,
What do the leydig cells produce
34  cards
Chromosomal Disorders
What are the major anomalies in t...,
What labs are abnormal in the new...,
What are the heart anomalies in t...
38  cards
Overgrowth
What is hyperphagia,
What are causes of obesit,
Mc4r deficiency
35  cards
Genoderm
What is the genetic change in inc...,
What are the stages of incontinen...,
What is incontinentia pigmenti
17  cards
Imprinting
What are the neonatal features of...,
What are the childhood adult feat...,
What is the phenotype of angelman...
18  cards
Neurocutaneous
What is the de novo rate of nf1,
What are the seven criteria for nf1,
What are the nervous system manif...
37  cards
Vision
What are some chromosomal abnorma...,
What are some chromosomal abnorma...,
What is the phenotype of bardet b...
15  cards
Hearing Loss
What is the phenotype of usher sy...,
How many newborns are born profou...,
What percentage of children in th...
23  cards
Inborn Errors of Metabolism--Complex Molecules
What does the peroxisome do,
What are the general features of ...,
What are the genes that cause zel...
72  cards
Inborn Errors of Metabolism--Small Molecules
What do all urea cycle disorders ...,
What is the genetic cause of orni...,
What blood tests do you perform f...
60  cards
Mitochondrial Disease
What is the phenotype of leber he...,
What is the most common mutation ...,
What does melas stand for
15  cards

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Survey of Human Genetic Disorders First Half

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