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a functional pax genecausingdenysa drash syndrome
The inverse effect ... some small deletionscauseAngelmans syndrome
lisa m satlin mineralocorticoid receptor genecausingdenysa drash syndrome
an abnormal accumulation of mucopolysaccharides - in this case , keratan sulfate - in the body(passive) is caused byMorquio syndrome
a single - nucleotide deletion in the 5 ' UTR of POMP resulting in altered distribution of POMP in epidermis and a perturbed formation of the outermost layers of the skin(passive) is caused byKLICK syndrome
Trauma , such as a car accidentcan also causeiliolumbar syndrome
Mutations in the Transcriptional Co - activator CBP(passive) Caused byRubenstein'Taybi Syndrome
They are not knownto causehit syndrome
abnormal parathyroid glands ... disrupting blood calcium levelscausesabnormal parathyroid glands ... disrupting blood calcium levels
a lower immune systemcausesa lower immune system
a short stature(passive) caused bya short stature
profound immunodeficiency(passive) caused byprofound immunodeficiency
physical and psychiatric disabilities that require life - long care and supervisioncausesphysical and psychiatric disabilities that require life - long care and supervision
her to have low muscle tonecausesher to have low muscle tone
from epidural scarringmay resultfrom epidural scarring
heart defects that result in an insufficient supply of oxygen - rich blood for the bodyoften causesheart defects that result in an insufficient supply of oxygen - rich blood for the body
shortness in stature , progressive physical disability and early deathcausesshortness in stature , progressive physical disability and early death
Gracie incredible pain in her joints , muscles and backcausesGracie incredible pain in her joints , muscles and back
physical and mental health issuescausesphysical and mental health issues
deformities such as congenital heart defectscausesdeformities such as congenital heart defects
to abnormal bone and spine developmentleadsto abnormal bone and spine development
a varied of medical problems such as poor functioning of the immune system , cardiac anomalies , complications arising out of low blood calcium levels , a cleft palate , and behavioral abnormalities , etccausesa varied of medical problems such as poor functioning of the immune system , cardiac anomalies , complications arising out of low blood calcium levels , a cleft palate , and behavioral abnormalities , etc
shortness in stature , progressive physical disability and ultimately early deathcausesshortness in stature , progressive physical disability and ultimately early death
a range of problemscan causea range of problems
the girl 's death from pneumonia and esophageal refluxcausedthe girl 's death from pneumonia and esophageal reflux
type B(passive) are caused bytype B
from Velocardiofacial syndromeresultsfrom Velocardiofacial syndrome
migration defects of neural crest -derived tissues , particularly affecting development of the third and fourth Branchial pouchescausesmigration defects of neural crest -derived tissues , particularly affecting development of the third and fourth Branchial pouches