| Gender |
|
|
| Male |
47.2% |
17/36 |
| Female |
52.8% |
19/36 |
| Indifferent |
0% |
0/36 |
| Unknown |
0% |
0/36 |
| General |
|
|
| Birth Length abnormalities |
8.3% |
3/36 |
| < P3 : Birth length less than 3rd percentile |
8.3% |
3/36 |
| Birth Weight abnormalities |
13.9% |
5/36 |
| < P3 : Small for gestational age |
11.1% |
4/36 |
| > P98 : Large for gestational age |
2.8% |
1/36 |
| Birth Head circumference abnormalities |
8.3% |
3/36 |
| > P98 : Macrocephaly at birth |
2.8% |
1/36 |
| < P3 : Primary microcephaly |
5.6% |
2/36 |
| Current Height abnormalities |
19.4% |
7/36 |
| < P3 : Short stature |
19.4% |
7/36 |
| Current Weight abnormalities |
13.9% |
5/36 |
| < P3 : Decreased body weight |
11.1% |
4/36 |
| > P98 : Increased body weight |
2.8% |
1/36 |
| Current Head circumference abnormalities |
5.6% |
2/36 |
| > P98 : Macrocephaly |
2.8% |
1/36 |
| < P3 : Microcephaly |
2.8% |
1/36 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
36/36 |
| Motor delay |
88.9% |
32/36 |
| Generalized hypotonia |
77.8% |
28/36 |
| Delayed speech and language development |
75.0% |
27/36 |
| Ataxia |
55.6% |
20/36 |
| Gait ataxia |
38.9% |
14/36 |
| Dysarthria |
19.4% |
7/36 |
| EEG abnormality |
16.7% |
6/36 |
| Incoordination |
16.7% |
6/36 |
| Febrile seizure (within the age range of 3 months to 6 years) |
11.1% |
4/36 |
| Hypomimic face |
11.1% |
4/36 |
| Seizure |
8.3% |
3/36 |
| Myopathy |
5.6% |
2/36 |
| Speech apraxia |
5.6% |
2/36 |
| Hypertonia |
2.8% |
1/36 |
| Hypotonia |
2.8% |
1/36 |
| Language impairment |
2.8% |
1/36 |
| Moderate intellectual disability |
2.8% |
1/36 |
| Neurodevelopmental delay |
2.8% |
1/36 |
| obsolete Difficulty walking |
2.8% |
1/36 |
| Behavioral problems |
93.3% |
14/15 |
| Attention deficit hyperactivity disorder |
40.0% |
6/15 |
| Autistic behavior |
40.0% |
6/15 |
| Motor stereotypy |
26.7% |
4/15 |
| Autism |
20.0% |
3/15 |
| Emotional lability |
13.3% |
2/15 |
| Low frustration tolerance |
6.7% |
1/15 |
| Motor tics |
6.7% |
1/15 |
| Brain abnormality |
34.5% |
10/29 |
| Abnormal cerebellum morphology |
27.6% |
8/29 |
| Cerebellar vermis hypoplasia |
20.7% |
6/29 |
| Delayed myelination |
6.9% |
2/29 |
| Abnormal cerebral ventricle morphology |
3.4% |
1/29 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
68.8% |
11/16 |
| Low-set ears |
6.3% |
1/16 |
| Abnormality of the eye |
100.0% |
24/24 |
| Strabismus |
87.5% |
21/24 |
| Nystagmus |
8.3% |
2/24 |
| Almond-shaped palpebral fissure |
4.2% |
1/24 |
| Broad eyebrow |
4.2% |
1/24 |
| Synophrys |
4.2% |
1/24 |
| Abnormality of the nose |
77.8% |
7/9 |
| Abnormal nasal bridge morphology |
55.6% |
5/9 |
| Anteverted nares |
22.2% |
2/9 |
| Abnormality of the mouth |
100.0% |
14/14 |
| Abnormal lip morphology |
85.7% |
12/14 |
| Delayed eruption of permanent teeth |
7.1% |
1/14 |
| High palate |
7.1% |
1/14 |
| Long uvula |
7.1% |
1/14 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
100.0% |
2/2 |
| Hypermetropia |
50.0% |
1/2 |
| Strabismus |
50.0% |
1/2 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
84.6% |
11/13 |
| Feeding difficulties |
61.5% |
8/13 |
| Constipation |
30.8% |
4/13 |
| Gastroesophageal reflux |
30.8% |
4/13 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
94.7% |
18/19 |
| Neurogenic bladder |
47.4% |
9/19 |
| Recurrent urinary tract infections |
42.1% |
8/19 |
| Vesicoureteral reflux |
42.1% |
8/19 |
| Abnormal external genitalia morphology |
31.6% |
6/19 |
| Abnormality of the kidney |
26.3% |
5/19 |
| Abnormality of the bladder |
26.3% |
5/19 |
| Cryptorchidism |
15.8% |
3/19 |
| Abnormal female reproductive system physiology |
10.5% |
2/19 |
| Skeleton |
|
|
| Skeletal abnormalities |
96.3% |
26/27 |
| Short stature |
51.9% |
14/27 |
| Abnormal forehead morphology |
29.6% |
8/27 |
| Prominent forehead |
25.9% |
7/27 |
| Broad chin |
22.2% |
6/27 |
| Long face |
22.2% |
6/27 |
| Short chin |
22.2% |
6/27 |
| Triangular face |
22.2% |
6/27 |
| Abnormal nasal bridge morphology |
14.8% |
4/27 |
| Pectus excavatum |
14.8% |
4/27 |
| Clinodactyly |
7.4% |
2/27 |
| Pointed chin |
7.4% |
2/27 |
| Short digit |
7.4% |
2/27 |
| Scoliosis |
3.7% |
1/27 |