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
|
- aHeight for these two children fall below 1–2 standard deviations from the mean for Pakistani children of similar age