Table 3.
Family | D172 | Family D301 | ||||||
---|---|---|---|---|---|---|---|---|
|
III-5 |
III-8 |
IV-3 |
III-5 |
III-9 |
IV-3 |
V-1 |
V-2 |
Male |
Male |
Male |
Male |
Male |
Male |
Male |
Male |
|
Clinical features |
|
|
|
|
|
|
|
|
Intellectual disability |
+/MO |
+/M |
+/MO |
+/S |
+/S |
+/MO |
+/MO |
+/MO |
Delayed motor development |
+ |
ND |
+ |
+ |
ND |
+ |
+ |
+ |
Delayed speech development |
+ |
ND |
+ |
+ |
+ |
+ |
+ |
+ |
Eneuresis |
+ |
- |
+ |
+ |
- |
- |
+ |
- |
Strabismus |
- |
- |
- |
+ |
- |
+ |
+ |
- |
ADHD |
- |
- |
- |
ND |
ND |
+ |
+ |
+ |
Seizures |
- |
- |
- |
+ |
- |
- |
- |
- |
Behavioural problems | - | - | + | + | - | + | - | - |
ND→No data, M→Mild, MO→Moderate, S→Severe, +→clinical feature present, -→clinical feature absent.