DOCTORS'
Medical Case Studies
DOCTORS'
Medical Case Studies
PE high myopia
Homocystinuria
Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected.
PE high myopia - List of case studies
- Chromosome 22 micro-deletion syndrome
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delayed motorial learning and speech, cognitive defect, high myopia, facial dysmorphies (narrow rima palpebrarum pointing upwards and ... Syndrome), congenic cardiopathy - tetralogy of Fallot, PE high myopia, delayed motorial learning and speech, cognitive defect, ...