Head & Face
• Microcephaly
• Flat philtrum
• Retrognathia
Respiratory
• Interstitial lung disease
Abdomen
• Hepatomegaly
• Splenomegaly
Skin & Eyes
• Oculocutaneous albinism
Neurologic
• Neurodevelopmental delay
• Seizures
• Cerebral atrophy
Immunology
• Immunodeficiency
• Neutropenia
• Recurrent bacterial infections
AP3D1