• Coarse facial features (resembling mucopolysaccharidoses, with wide nasal base, full cheeks, long philtrum)
• Growth restriction and short stature
• Global developmental delay (motor and language)
• Severe congenital neutropenia requiring G-CSF
• Peripheral neuropathy (sensorimotor)
• Splenomegaly and chronic liver disease (portal hypertension, cirrhosis)
• Skeletal dysplasia (thoracolumbar gibbosity, beaking of vertebrae)
• Additional features: seizures, umbilical hernia, cryptorchidism and ophthalmologic findings (optic disc pallor, retinopathy) reported in single patients
• Mildly increased urinary glycosaminoglycans
VPS16 autosomal recessive