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. 2009 May 22;4(5):e5666. doi: 10.1371/journal.pone.0005666

Table 1. Clinical symptoms in the siblings of the HHS-affected family.

Symptoms\Siblings S1 S2 S3 S4 S5
Skin pigmentation +1
Nail dystrophy + + + +
Leukoplakia + + + +
Bone marrow failure + + + +
T+ B NK immunodeficiency + + + +
Intrauterine growth retardation + + +
Growth retardation + + +
Microcephaly + + + +
Cerebellar hypoplasia/dysfunction + + +2 +2
Pancytopenia + + + +
Infections + + + +
Esophageal atresia + +3 +3 +3
1

Mild pigmentation was observed.

2

Cerebellar hypoplasia was confirmed by imaging.

3

History of major difficulties in swallowing solid food; not confirmed by imaging.