Combined immunodeficiency with faciooculoskeletal anomalies syndrome

Parents (13)

• 85995004Autosomal recessive hereditary disorder disorder
• 442459007Combined immunodeficiency disease disorder
• 95502000Congenital anomaly of optic nerve disorder
• 8447006Congenital anomaly of skeletal bone disorder
• 722990003Congenital atrophy of optic nerve disorder
• 95477007Congenital degeneration of nervous system disorder
• 36138009Congenital immunodeficiency disease disorder
• 363070008Developmental hereditary disorder disorder
• 106018006Hereditary degenerative disease of central nervous system disorder
• 363138005Hereditary disorder of immune system disorder
• 363212003Hereditary disorder of musculoskeletal system disorder
• 312942003Inherited optic neuropathy disorder
• 65094009Multiple malformation syndrome with facial defects as major feature disorder

Children (0)

None (leaf concept).