Gender |
|
|
Male |
31.6% |
6/19 |
Female |
68.4% |
13/19 |
Indifferent |
0% |
0/19 |
Unknown |
0% |
0/19 |
Neurology |
|
|
Neurological abnormalities |
100.0% |
19/19 |
Muscular hypotonia |
100.0% |
19/19 |
Seizures |
26.3% |
5/19 |
Inability to walk |
5.3% |
1/19 |
Behavioral problems |
78.9% |
15/19 |
Behavioral abnormality |
78.9% |
15/19 |
Apathy |
5.3% |
1/19 |
Sleep disturbance |
5.3% |
1/19 |
Brain abnormality |
56.3% |
9/16 |
Abnormality of brain morphology |
50.0% |
8/16 |
Abnormality of the cerebral white matter |
6.3% |
1/16 |
Facial abnormalities |
|
|
Abnormality of the eye |
100.0% |
19/19 |
Abnormality of the eyebrow |
100.0% |
19/19 |
Synophrys |
100.0% |
19/19 |
Coloboma |
5.3% |
1/19 |
Strabismus |
5.3% |
1/19 |
Abnormality of the mouth |
100.0% |
19/19 |
Everted lower lip vermilion |
100.0% |
19/19 |
Exaggerated cupid's bow |
100.0% |
19/19 |
Protruding tongue |
100.0% |
19/19 |
Visual and hearing impairments |
|
|
Abnormal hearing |
36.8% |
7/19 |
Hearing impairment |
36.8% |
7/19 |
Heart |
|
|
Abnormality of the heart |
31.6% |
6/19 |
Abnormal heart morphology |
26.3% |
5/19 |
Atrial flutter |
5.3% |
1/19 |
Left ventricular hypertrophy |
5.3% |
1/19 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
42.1% |
8/19 |
Gastroesophageal reflux |
36.8% |
7/19 |
Anal atresia |
5.3% |
1/19 |
Urogenital |
|
|
Abnormality of the urogenital system |
21.1% |
4/19 |
Abnormal genital system morphology |
10.5% |
2/19 |
Hydronephrosis |
5.3% |
1/19 |
Vesicoureteral reflux |
5.3% |
1/19 |
Skeleton |
|
|
Skeletal abnormalities |
26.3% |
5/19 |
Abnormality of the skeletal system |
21.1% |
4/19 |
Joint hypermobility |
5.3% |
1/19 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
5.3% |
1/19 |
Abnormality of the teeth |
5.3% |
1/19 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
10.5% |
2/19 |
Precocious puberty |
10.5% |
2/19 |
Abnormality of the immune system |
10.5% |
2/19 |
Recurrent infections |
10.5% |
2/19 |