Angelman syndrome - ANSWER Deletion of normally active maternal allele. Mental

retardation, seizures, ataxia, inappropriate laughter ("happy puppet")

Canavan disease - ANSWER autosomal recessive, chromosome 17

enzyme aspartoacylase

hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive

leukodstrophy, and death in 1st decade

coeliac disease - ANSWER protein gluten is not properly broken down

cystic fibrosis - ANSWER Hereditary condition that causes the ex...
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