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Table 2 Phenotypic features of NAA15-related neurodevelopmental syndrome compared to our patient with 4q31.1 deletion

From: Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

Clinical features NAA15-related neurodevelopmental syndrome 4q31.1 deletion (current patient)
Developmental delays Always, mild to severe Severe
Hypotonia Sometimes Yes, severe
Microcephaly Rare Yes
Seizures Sometimes No
Autism Frequent Self-injurious behavior
Heart defects Sometimes Yes
Hypertelorism Rare Yes
Posteriorly rotated ears Sometimes Yes
Triangular chin Frequent Yes