· Acrodermatitis
· Aortic stenosis
· Cerebellar hypoplasia
· Deafness ; birth – old age
· Epilepsy; 6 months – old age
· Inguinal hernia; birth – adult
· Lethal acrodermatitis
· Nasal solardermatitis; 4 months – adult
· Photo induced folliculitis/furunculosis
· Spinning syndrome
· Stud tail
· Subvalvular aortic stenosis
· Umbilical hernia; birth – 1 year
· Urolithiasis, cysteine