Subject Characteristics |
Subject Characteristics |
Subject
Characteristics |
Subject Characteristics |
Male |
13/21 |
Male |
14/22 (64) |
Consanguineous |
7 (13 NR) |
+ |
|
Ethnicity
|
10 Middle eastern
8 Caucasian
3 Turkish
|
Asian
|
|
Death
Age of death (Median, years)
|
7
5 (7 months – 61 years)
|
Alive
|
15/21 (71)
|
Clinical Features |
Clinical Features |
Clinical Features |
Clinical
Features |
Dysmorphism |
16/16 |
+ |
17/17 (100) |
Thermoregulation abnormalities |
4/15 |
- |
4/16 (25) |
Neurological Features |
Neurological Features |
Neurological Features |
Neurological Features |
Microcephaly |
5/21 |
- |
5/22 (23) |
Failure to thrive |
2/21 |
- |
2/22 (9) |
Hypotonia |
21/21 |
+ |
22/22 (100) |
GDD/ID |
21/21 |
+ |
22/22 (100) |
Poor/Absent speech
|
13/18
3 NA
|
NA
|
13/18 (72)
|
Seizures |
10/21 |
- |
10/22 (45) |
Independent walking |
9/18 |
NA |
9/18 (50) |
MRI Abnormalities |
4/7 |
- |
4/8 (50) |
Ophthalmological features |
Ophthalmological features |
Ophthalmological
features |
Ophthalmological features |
Poor vision |
6/6 |
NA |
|
Refractive error/strabismus |
13/14 |
NA |
|
Abnormal eye movements (Nystagmus, rotatory eye movements) |
12/21 |
+ |
13/22 (59) |
Respiratory features |
Respiratory features |
Respiratory features |
Respiratory features |
Hypoventilation/bradypnea |
11/19 |
+ |
12/20 (60) |
Sleep Apnea |
6/18 |
+ |
7/19 (36) |
Respiratory support (BiPAP/HFNC) |
6/13 |
+ |
7/14 (50) |
Gastrointestinal |
Gastrointestinal |
Gastrointestinal |
Gastrointestinal |
Constipation |
11/20 |
- |
11/21(52) |
Skeletal |
Skeletal |
Skeletal |
Skeletal |
Scoliosis |
3/9 |
- |
3/10 (30) |