Table 1:

Comparison of phenotypes of our patient, PURA-related neurodevelopmental disorder, IHPRF1, 2, and 3

Phenotypic characteristics	Proband	PURA-related neurodevelopmental disorder	IHPRF2 (UNC80)	IHPRF1 (NALCN)	IHPRF3 (TBCK)
Neurodevelopmental abnormality
Motor delay	+	+	+	+	+
Speech delay	+	+	+	+	+
Cognitive delay	+	+	+	+	+
Hypotonia	+	+	+	+	+
Seizures or ‘seizure-like’ activity	+	+	+	+	+
Feeding difficulties	+	+	+	+	+
Oral motor dysfunction	+	+	+	+	+
Dyskinesia	+	+	+	+	−
Sensory hypersensitivity$	+	Only startle reflex	+	−	−
Facial features
Brachycephaly	+	+	+	+	+
Hypotonic facies	+	+	+	+	+
Broad forehead	+	+	+	+	+
Downslant palpebral fissures	+	+	+	+	+
Broad nasal bridge	+	+	+	+	+
Bulbous nasal tip	+	+	+	−	+
Open mouth	+	+	+	+	+
Thick vermilion of upper lip	+	−	−	−	+
Tented upper lip	−	+	+	+	+
Ocular abnormality
Strabismus	+	+	+	+	+
Nystagmus	+	+	+	+	+
Esotropia	+	+	+	+	+
Musculoskeletal abnormality
Scoliosis	−	+	+	+	+
Joint contractures	−	+	+	+	+
Growth
Microcephaly	+	+	+	+	+
Short stature	+	+	+	+	+
Postnatal weight < 3rd centile	+	+	+	+	+
Brain imaging
MRI brain findings	Normal	Delayed myelination; nonspecific white matter hyperintensities; thin corpus callosum; enlargement of extra-axial spaces; mild cerebral atrophy	Nonspecific white matter hyperintensities; thin corpus callosum; enlargement of ventricles and extra-axial spaces; mild cerebral atrophy	Cerebral and cerebellar atrophy	Nonspecific white matter abnormalities; thin corpus callosum; enlargement of ventricles; cerebral atrophy

(+): present; (−): absent

^#IHPRF: Infantile hypotonia with psychomotor retardation and characteristic facies

^$Sensory hypersensitivity: hypersensitivity to various stimuli (like sound, light, and on eliciting deep tendon reflexes)