Show pageOld revisionsBacklinksBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ====== Okur-Chung Neurodevelopmental Syndrome ====== ====Main Features==== * Delayed language development * Delayed motor development * Intellectual disability ====Eye Findings==== * Infrequently strabismus ====Other Findings==== ^ Feature ^ Proportion of Persons w/Feature ^ Comment ^ | Developmental delay / Intellectual Disability | 35/35 | Generally mild-to-moderate, w/language development most affected domain | | Dysmorphic facial features | 29/36 | Round face & short, broad nasal tip | | Behavioral issues | 27/36 | | | Hypotonia | 22/36 | Generally mild | | Brain MRI abnormalities | 11/20 | Nonspecific | | Musculoskeletal findings | 15/36 | Kyphoscoliosis, loose joints, hernia | | Difficulty feeding | 14/36 | From infancy to childhood | | Postnatal short stature | 14/36 | Generally 2-3 SD below mean | | Difficulty gaining weight | 13/36 | | | Sleep issues | 13/36 | Disrupted circadian rhythm | | Microcephaly / smaller head (absolute or relative) | 12/36 | | | Seizures | 11/36 | No specific type | | Ataxia / gait difficulties / poor coordination | 9/36 | | <wrap round box> From Reference (1) below </wrap> ====Etiology==== * de novo [[https://www.ncbi.nlm.nih.gov/gene/1457#:~:text=CSNK2A1%20plays%20a%20role%20in,transition%20and%20metastasis%20of%20cancers.|CSNK2A1 gene]] mutations * Autosomal Dominant ====Resources==== - [[https://www.ncbi.nlm.nih.gov/books/NBK581083/|Gene Reviews: Okur-Chung Neurodevelopmental Syndrome Synonym: CSNK2A1-Related Neurodevelopmental Syndrome]] {{tag>syndrome}} syndrome