Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome

Parents (13)

• 13028004Abnormal nervous system function finding
• 85995004Autosomal recessive hereditary disorder disorder
• 363070008Developmental hereditary disorder disorder
• 1362108000Genetic intellectual disability disorder
• 224958001Global developmental delay disorder
• 37650008Hereditary cerebellar degeneration disorder
• 363212003Hereditary disorder of musculoskeletal system disorder
• 363343008Hereditary disorder of the visual system disorder
• 65094009Multiple malformation syndrome with facial defects as major feature disorder
• 1137472008Neurodevelopmental delay disorder
• 563001Nystagmus disorder
• 312894000Osteopenia disorder
• 128613002Seizure disorder disorder

Children (0)

None (leaf concept).