ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Parents (9)

• 85995004Autosomal recessive hereditary disorder disorder
• 78689005Chronic brain syndrome disorder
• 128289001Chronic metabolic disorder disorder
• 363070008Developmental hereditary disorder disorder
• 32612005Disorder of purine metabolism disorder
• 224958001Global developmental delay disorder
• 128190004Inherited metabolic disorder of nervous system disorder
• 1148757008Microcephaly finding
• 128613002Seizure disorder disorder

Children (0)

None (leaf concept).