|
Face
|
craniofacial dysmorphism
|
+
|
-
|
|
Cone-rod dystrophy
|
onset age
|
<3 months
|
>3 months
|
|
photophobia
|
+
|
+
|
|
nystagmus
|
+
|
+
|
|
Blindness
|
7–8 years
|
-
|
|
Full-field electroretinography (ERG)
|
+
|
±
|
|
Fundus examination
|
+
|
+
|
|
Obesity
|
Obesity
|
+
|
-
|
|
Hearing loss
|
onset age
|
8–9 years
|
-
|
|
glue ear (long-standing sticky fluid in the middle ear)
|
-
|
-
|
|
Chronic otitis media
|
-
|
-
|
|
Sensorineural impairment
|
+
|
-
|
|
Diabetes
|
onset age
|
14 years
|
-
|
|
plasma insulin concentration
|
+
|
-
|
|
glucose intolerance
|
+
|
-
|
|
insulin resistance
|
-
|
-
|
|
acanthosis nigricans
|
-
|
-
|
|
Coronary artery disease
|
-
|
-
|
|
Diabetic peripheral neuropathy
|
-
|
-
|
|
Short stature
|
+
|
+
|
|
Cardiomyopathy
|
-
|
-
|
|
Hyperlipidemia
|
+
|
-
|
|
Developmental delay
|
-
|
-
|
|
Male pubertal development
|
-
|
-
|
|
Urologic disease
|
-
|
-
|
|
Renal disease
|
-
|
-
|
|
Hepatic disease
|
-
|
-
|
|
Gastrointestinal disease
|
-
|
-
|
|
Pulmonary involvement
|
-
|
-
|
|
Neurologic
|
-
|
-
|
