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Table 1 Clinical features of individuals with nonphotosensitive trichothiodystrophy

From: Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

Individuals ED168 ED210 ED241
IV-1 IV-2 IV-4 IV-6 IV-3 IV-4 IV-1 IV-2 IV-5
Gender Female Male Male Male Female Male Male Male Female
Age (years) 38 35 27 23 17 8 25 15 12
Height 5′4″ 5′8″ 5′6″ 5′6″ 4′9″ 3′4″a 5′7″ 5′1″ 4′5″a
Gestation Normal Normal Normal Normal Normal Normal Normal Normal Normal
Hair features
 -Brittle hair Yes Yes Yes Yes Yes Yes Yes Yes Yes
 -Dystrophic shaft Yes Yes Yes Yes Yes Yes Yes Yes Yes
 -Hair growth Slow Slow Slow Slow Slow Slow Slow Slow Slow
 -Diffuse hair fall Yes Yes Yes Yes Yes Yes Yes Yes Yes
Eyebrows Sparse Sparse Sparse Sparse Sparse Sparse Sparse Absent Absent
Eyelashes Sparse Sparse Sparse Sparse Sparse Sparse Sparse Absent Absent
Beard - Less dense Less dense Less dense - - Less dense - -
Aged appearance Yes Yes Yes Yes Yes Yes Yes Yes Yes
Intellectual disability Mild Mild Mild Mild Mild Mild Mild Mild Mild
Speech Slurred Slurred Slurred Slurred Slurred Slurred Slurred Slurred Slurred
Epilepsy No Yes No No No No No No No
Ocular features
 -Blurred vision Yes Yes No No Yes Yes Yes Yes Yes
 -Corneal bulging Yes Yes No No No No No No No
 -Corneal opacity No Yes No No No No No No No
Recurrent rhinosinusitis Severe Severe Mild Mild Mild Mild Mild Mild Mild
High-arched Palate Yes ? Yes Yes Yes Yes Yes Yes Yes
Teeth Normal Normal Irregular, Hypodontia Normal Normal Irregular, Hypodontia Irregular Normal Normal
Skeletal structure Normal Normal Normal Normal Normal Normal Normal Normal Normal
Ichthyosis No No No No No No No No No
UV sensitivity No No No No No No No No No
Nails Normal Grooved Grooved Normal Thick Normal Dystrophic Dystrophic Dystrophic
Mitral regurgitation Yes Yes Yes Yes Yes Yes Yes Yes Yes
  1. aHeight for these two children fall below 1–2 standard deviations from the mean for Pakistani children of similar age
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