Table I.

Comparison of clinical and laboratory features in current and previously described patients with autosomal-recessive deficiency of SMARCD2

Clinical features in previously described patients	Clinical features in this patient
Clinical (4/4): •Delayed umbilical cord separation •Pneumonia •Recurrent septicemia •Intractable diarrhea •Failure to thrive	•Delayed umbilical cord separation •Poor wound healing •Sepsis •Diarrhea •Failure to thrive
Hematological findings (4/4): •SGD •Maturation arrest in bone marrow •Blast excess in bone marrow	•SGD
Extrahematopoietic: •Increased interdigital space D1-D2 (2/3) •Osteopenia (1/3) •Brittle, dysplastic, short nails (2/3) •Hirsutism (2/3) •Developmental delay, learning difficulties, dyspraxia (2/3) •Irregularly shaped misaligned teeth (partly conical) (2/2)	•Brittle nails •Learning difficulties •Misaligned teeth