Table 2.

Clinical characteristics of individuals with SEPHS1 variants

Demographics	Individual 1	Individual 2	Individual 3	Individual 4	Individual 5	Individual6	Individual 7	Individual 8	Individual9
Age at last evaluation	2.5 years	23 months	8 years	11 years	16 years	7.6 years	2 days	3.5 years	4 years
Neurocognitive features
Developmental delay	+	+	+	+	+	+	NR	+	+
Intellectual disability	NR	–	+	NR	+	possiblea	NR	+	possiblea
Neurobehavioral diagnoses	NR	NR	NR	NR	+	+	NR	NR	–
Hypotonia and/or muscle weakness	+	+	+	–	+	+	+	NR	+
Clinically significant brain malformation on MRI	NR	NR	–	–	–	NR	NR	–	–
Other neurologic findings	–	–	+	–	+	+	NR	NR	–
Growth-related features
History of poor height growth	+	+	–	+	+	–	–	–	+
History of poor weight gain	+	+	–	+	+	–	NR	–	+
Feeding difficulties	+	+	+	–	+	+	NR	NR	+
Additional features
Dysmorphic craniofacial featuresb	+	+	+	+	+	+	NR	NR	+
Endocrine	–	+	NR	+	+	NR	+	+	–
Respiratory	+	–	+	+	+	–	+	+	–
Ophthalmologic	+	–	–	NR	+	+	NR	NR	+
Cardiac	–	–	–	–	+	NR	+	+	–
Gastrointestinal	+	–	+	+	–	–	NR	NR	NR

NR, data not reported

^aNo formal assessment of intellectual disability

^bDysmorphic facial features are described in Table S1