100 Syndromes to know!!

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

Decks in this class (10)

Oncologic disorders
What is the overall contribution ...,
The brca2 protien is invloved in ...,
When
40  cards
Cardiovascular
Responsible gene indicathed in 22...,
Major electrolyte abnormality in ...,
Major heart defects found in 22q1...
33  cards
Chromosome Breakage Disorders
Chromosome translocation most com...,
50 of individials with the diagno...,
Common clinical findings found in...
9  cards
Connective tissue disorders
Marfan like appearnce slender lon...,
What is the disease mechanism of ...,
Genes responsible for the followi...
11  cards
Dermatologic disorders/Endocrine Disorders
Partial or total alopecia dystrop...,
Hypotrichosis hypohydrosis hypodonia,
What are the 4 stages of the
17  cards
Disorders of hearing and or vision
Blephoriphimosisptosisepicanthus ...,
Connexin 26arsnhl,
Oculocutaneous albinism bleeding ...
17  cards
Hematologic/immunologic disorders/multiple congenital anomalies
Results from half normal activity of,
What substance is increased durin...,
Loss or dysfunction of all
22  cards
Neurological/Neuromuscular
Elevated vlcfa20 females with spa...,
Post mortum beta amyloidneuotic p...,
Loss of maternall imprinted contr...
27  cards
Overgrowth/Premature Aging/Pulmonary/Renal
Beckwith wiedemann11p15loss of me...,
Paternal uniparental disomy chrom...,
Beckwith wiedemanngain of methyla...
14  cards
skeletal dysplasia
Rhizomelic shortening macrocephal...,
99 of achondroplasia are due to t...,
Deayed closure of cranial sutures...
10  cards

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100 Syndromes to know!!

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