Table 1 Clinical features of the present patient in comparison with previously reported patients.

From: A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

  Present patient Palmer et al. 3
Parental ages at birth of child (years) Paternal 33/Maternal 28 25–34
Evidence of mosaicism No (allelic depth 8/17 [47%]a) No
Age (years) 14 3–29
Gender Male 3/7 male (43%)
Level of intellectual disability Severe 7/7 severe profound
Occipitofrontal circumference Progressive microcephaly 3/7 progressive microcephaly
Infantile hypotonia/delayed + 7/7 (100%)
Autism spectrum disorder + 5/7 (71%)
Communication 6/7 non-verbal or only few words (86%)
Ambulation 5/7 ambulant (71%) with wide-based gait
Temperament/behavior Self-injury 4/7 hyperactivity (57%)
Epilepsy + 4/7 seizure/ possible seizure disorder (57%)
Progressive spasticity + 3/7 (43%)
Movement disorder Head tics 6/7 (86%)
Ophthalmological features Strabismus 5/7 (71%)
Brain magnetic resonance imaging Cavity of septum pellucidum 1/7 cortical atrophy (14%)
Additional neurological features Truncal hypotonia 5/7 (71%)
Gastro-intestinal symptoms Frequent vomitting 6/7 (86%) significant symptoms
Distinctive facial features + 7/7 (100%)
  1. This table is referred to the table provided in the report by Palmer et al.3.
  2. a Allelic depth means depth of a rare variant in total reads at the indicated position.