Table 1

Clinical findings in patients with PIGT mutations

Clinical feature	Patient
Clinical feature	V-1	V-2	V-4	V-5
Gestation length	40 weeks	39 weeks	37 weeks	37 weeks
Birth length	53 cm + 1.5 SD	54 cm + 2 SD	53 cm+2.5 SD	53 cm+2.5 SD
Birth weight	4735 g+3 SD	4500 g+2.5 SD	3460 g+1 SD	3240 g+0.5 SD
OFC	38 cm+2 SD	39 cm+3 SD	35 cm+1 SD	36 cm+1.5 SD
Neurologic features	+	+	+	+
ID	+	+	+	+
Hypotonia	+	+	+	+
Seizures	Myoclonic	Head jerks, blinkings, absence	Myoclonic	Generalised tonic clonic
Brain imaging	CT: primitive Sylvian fissures indicating a possible neuronal migration disorder	CT: normal findings	MRI age 2.7 years: global atrophy with predominant vermis and cerebellar atrophy, atrophy of basal ganglia	MRI age 2.7 years: global atrophy with predominant vermis and cerebellar atrophy, hypomyelination
EEG	Multifocal epileptiform abnormalities	Multifocal epileptiform abnormalities	Theta waves	Multifocal epileptiform abnormalities
Ophthalmologic features	+	+	+	+
Strabismus	+	+	+	+
Nystagmus	+	+	+	+
Cerebral visual impairment	+	+	+	+
Hyperopia	+	+	+	+
Down gaze palsy	na	+	na	na
Skeletal features	+	+	+	+
Craniosynostosis	Metopic. Surgically corrected at the age of 5 months	Lamboid sin. Surgery not required	na	na
Pectus excavatum	+	−	−	−
Short arms	+	+	+	+
Scoliosis	+	+	−	−
Delayed bone age	+	+	+	+
Reduced mineralisation	+	+	+	+
Urologic/renal features	+	+	+	+
Nephrocalcinosis	+	+	+	+
Ureteral dilation	−	+	+	+
Cysts and dysplasia	−	+	−	−
Tooth abnormalities	+	+	+	+
Cardiologic features	Minor PDA	Normal ECG and echocardiogram	Mild restrictive CMP on echocardiogram	Increased atrial load on ECG
Other			Inverted mamillae	Inverted mammillae Hyperlobulated lungs Died at the age of 3 years (bronchopneumonia)

CMP, cardiomyopathy; ECG, electrocardiogram; EEG, electroencephalogram; ID, intellectual disability; MRS, magnetic resonance spectroscopy; na, results not available; OFC, occipitofrontal circumference; PDA, patent ductus arteriosus.