Focus on syndromic features

Several IPDs are part of syndromes and other organs might be affected. Therefore, presence of the following should be noted. For comprehensive list, see Appendix, Table 2.

• Albinism

• Pulmonary fibrosis

• Colitis

• Myelofibrosis (NBEAL2)

• Cryptorchism (GATA1)

• Bone marrow failure

• Sitosterolemia

• Bone abnormalities

• Immunodeficiency (WAS, FERMT3, NBEAL2)

• Autism (NBEA)

• Developmental impairment (CDC42)

• Kidney impairment, (MYH-9)

• Deafness (MYH-9, DIAPH1)

• Cataract (MYH-9)

• Myopathia (STIM1, GNE)

• Eczema (WAS)

• Heart defects

• Gastroduodenal ulcers (PLA2G4A)

• Arthrogryposis with renal dysfunction and cholestasis (VIPAS39, VPS33B)