Epilepsy telangiectasia syndrome

Parents (15)

• 13028004Abnormal nervous system function finding
• 897328006Abnormally short little finger disorder
• 85995004Autosomal recessive hereditary disorder disorder
• 310798000Brachydactyly of hand disorder
• 363005004Cardiovascular system hereditary disorder disorder
• 429448005Congenital anomaly of anterior segment of eye disorder
• 128327004Congenital anomaly of ocular adnexa disorder
• 2818004Congenital vascular anomaly of eye disorder
• 231870008Conjunctival telangiectasis disorder
• 363070008Developmental hereditary disorder disorder
• 84757009Epilepsy disorder
• 1362108000Genetic intellectual disability disorder
• 363235000Hereditary disorder of nervous system disorder
• 363343008Hereditary disorder of the visual system disorder
• 23359005Multiple malformation syndrome with facial-limb defects as major feature disorder

Children (0)

None (leaf concept).