Table 1:

Summary of Neurological and Radiological Features of Individuals with Biallelic PPP1R35 Variant

Basic clinical info	Individuals	Indi.III-4 (Fam. 1)	Indi.-III-2 (Fam. 2)	Indi.-III-3(Fam. 2)
	Ethnicity	Turkish	Persian	Persian
	Gestation	Term	NA	NA
	OFC-birth/cm (z-score)	26 (−6.3)	NA	NA
	Height-birth/cm(z-score)	48 (−0.9)	NA	NA
	Age at last examination	3yrs, 5mo	25yrs	20yrs
	OFC/cm (z-score)	40 (−6.9)	38 (−15)	41 (−12)
	Height/cm(z-score)	95 (−1.1)	139 (−3.7)	149 (−2.1)
	Dysmorphic features	severe microcephalic appearance, sloping forehead, relatively large ears, constricted ear helices, smooth philtrum, micrognathia	severe microcephalic appearance, large nose, micrognathia, maxillary hyperplasia misalignment of teeth	severe microcephalic appearance, large nose, micrognathia, maxillary hyperplasia misalignment of teeth
Neurological	Tone	normal	normal	normal
	Reflexes	normal	normal	normal
	Spasticity	no	no	no
	Ophthalmology	normal	normal	normal
	Auditory	normal	normal	normal
Psychomotor	Motor Skills	delayed	delayed	delayed
	Language	no speech	slurred speech less than 10 word	slurred speech less than 10 word
	Other features	self-mutilation, aggression, hitting his head constantly	self-mutilation, aggression, short temper	self-mutilation, aggression, short temper
	Seizures; Onset/Type	no	infancy/tonic-clonic	infancy/tonic-clonic
Tests	EEG	normal	NA	NA
	Brain MRI	Microcephaly, pachygyria with antero-posterior gradient, cerebellar volume loss, foreshortening and thinning of corpus callosum, delayed white matter myelinization	NA	NA

Abbreviations: EEG, electroencephalogram; Fam., Family; indi., individual; mo, months; MRI, magnetic resonance imaging; NA, not available; NR, not reported; OFC, occipital frontal circumference; yrs, years