Growth parameters
Postnatal overall growth retardation is present in all reported patients. Several patients also had small head size at birth (-2SD).
Neurological features
Patients with PCH10 have developmental delay, severe intellectual disability, progressive microcephaly, and refractory seizures. All individuals had failure to develop fine or gross motor skills, absent or delayed speech and ambulation, limb spasticity with hypertonia and hyperreflexia. Electrophysiological studies demonstrated a severe axonal sensorimotor neuropathy. Brain MR imaging findings include cortical dysgenesis, simplified gyral pattern, cerebellar vermian loss, and thinning or hypoplasia of the brainstem. Strabismus, mostly in exotropia nature, is also noted in many patients.
Dysmorphic features
Dysmorphic features included bi-temporal narrowing, high-arched eyebrows, synophrys, prominent eyes, esotropia, long palpebral fissures and eyelashes, broad nasal root, hypoplastic nasal alae, bulbous nasal tip, low hanging columella, widely spaced teeth, short neck, tapered fingers, and upper and lower limb hypertrichosis.
Skeletal features
In several individuals kyphoscoliosis and hip abnormalities including developmental dysplasia of the hip and bilateral hip subluxation were reported.
GIT features
Constipation and gastro-oesophageal reflux were reported in one patient.