| Gender |
|
|
| Male |
64.3% |
9/14 |
| Female |
35.7% |
5/14 |
| General |
|
|
| Birth Length abnormalities |
14.3% |
2/14 |
| < P3 : Birth length less than 3rd percentile |
7.1% |
1/14 |
| > P98 : Birth length greater than 97th percentile |
7.1% |
1/14 |
| Birth Weight abnormalities |
0% |
0/14 |
| Birth Head circumference abnormalities |
0% |
0/14 |
| Current Height abnormalities |
0% |
0/14 |
| Current Weight abnormalities |
0% |
0/14 |
| Current Head circumference abnormalities |
0% |
0/14 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
14/14 |
| Muscular hypotonia |
85.7% |
12/14 |
| Seizures |
64.3% |
9/14 |
| Generalized tonic-clonic seizures |
28.6% |
4/14 |
| EEG abnormality |
21.4% |
3/14 |
| EEG with focal spike waves |
21.4% |
3/14 |
| Brisk reflexes |
7.1% |
1/14 |
| EEG with generalized sharp slow waves |
7.1% |
1/14 |
| EEG with focal spikes |
7.1% |
1/14 |
| Focal seizures |
7.1% |
1/14 |
| Hypertonia |
7.1% |
1/14 |
| Intellectual disability, profound |
7.1% |
1/14 |
| Myoclonus |
7.1% |
1/14 |
| Oculogyric crisis |
7.1% |
1/14 |
| Behavioral problems |
28.6% |
4/14 |
| Absent speech |
7.1% |
1/14 |
| Expressive language delay |
7.1% |
1/14 |
| Irritability |
7.1% |
1/14 |
| Polyphagia |
7.1% |
1/14 |
| Self-injurious behavior |
7.1% |
1/14 |
| Stereotypic behavior |
7.1% |
1/14 |
| Brain abnormality |
7.1% |
1/14 |
| Frontotemporal cerebral atrophy |
7.1% |
1/14 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
35.7% |
5/14 |
| Macrotia |
28.6% |
4/14 |
| Thickened helices |
7.1% |
1/14 |
| Abnormality of the eye |
85.7% |
12/14 |
| Hypertelorism |
57.1% |
8/14 |
| Epicanthus |
50.0% |
7/14 |
| Bilateral ptosis |
14.3% |
2/14 |
| Downslanted palpebral fissures |
7.1% |
1/14 |
| Prominent epicanthal folds |
7.1% |
1/14 |
| Abnormality of the nose |
92.9% |
13/14 |
| Depressed nasal bridge |
85.7% |
12/14 |
| Wide nasal bridge |
71.4% |
10/14 |
| Short columella |
50.0% |
7/14 |
| Anteverted nares |
28.6% |
4/14 |
| Wide nose |
14.3% |
2/14 |
| Low hanging columella |
7.1% |
1/14 |
| Thick nasal alae |
7.1% |
1/14 |
| Underdeveloped nasolabial fold |
7.1% |
1/14 |
| Abnormality of the mouth |
92.9% |
13/14 |
| Downturned corners of mouth |
85.7% |
12/14 |
| Wide mouth |
71.4% |
10/14 |
| Thick vermilion border |
50.0% |
7/14 |
| Open mouth |
35.7% |
5/14 |
| Gingival overgrowth |
28.6% |
4/14 |
| Everted lower lip vermilion |
21.4% |
3/14 |
| High palate |
21.4% |
3/14 |
| Abnormality of the teeth |
14.3% |
2/14 |
| Delayed eruption of teeth |
14.3% |
2/14 |
| Thick upper lip vermilion |
14.3% |
2/14 |
| Malar flattening |
7.1% |
1/14 |
| Tented upper lip vermilion |
7.1% |
1/14 |
| Triangular mouth |
7.1% |
1/14 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
14.3% |
2/14 |
| Poor eye contact |
7.1% |
1/14 |
| Strabismus |
7.1% |
1/14 |
| Heart |
|
|
| Abnormality of the heart |
9.1% |
1/11 |
| Atria septal defect |
9.1% |
1/11 |
| Pulmonic stenosis |
9.1% |
1/11 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
46.2% |
6/13 |
| Constipation |
38.5% |
5/13 |
| Gastroesophageal reflux |
7.7% |
1/13 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
7.1% |
1/14 |
| Micropenis |
7.1% |
1/14 |
| Skeleton |
|
|
| Skeletal abnormalities |
92.9% |
13/14 |
| Long toe |
71.4% |
10/14 |
| Adducted thumb |
57.1% |
8/14 |
| Broad thumb |
57.1% |
8/14 |
| Broad toe |
35.7% |
5/14 |
| Shortening of all distal phalanges of the fingers |
35.7% |
5/14 |
| Pseudoepiphysis of the thumb |
21.4% |
3/14 |
| Pseudoepiphysis of the distal phalanx of the thumb |
14.3% |
2/14 |
| Abnormality of femoral epiphysis |
7.1% |
1/14 |
| Absent fingernail |
7.1% |
1/14 |
| Absent distal phalanges |
7.1% |
1/14 |
| Absent toenail |
7.1% |
1/14 |
| Aplasia/Hypoplasia of the distal phalanges of the hand |
7.1% |
1/14 |
| Clinodactyly of the 5th toe |
7.1% |
1/14 |
| Osteosclerosis of ribs |
7.1% |
1/14 |
| Pes planus |
7.1% |
1/14 |
| Pseudoepiphyses of hand bones |
7.1% |
1/14 |
| Small humeral epiphyses |
7.1% |
1/14 |
| Small thenar eminence |
7.1% |
1/14 |
| Tapered finger |
7.1% |
1/14 |
| Wide tufts of distal phalanges |
7.1% |
1/14 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
100.0% |
14/14 |
| Absent nail of hallux |
42.9% |
6/14 |
| Hypoplastic thumbnail |
28.6% |
4/14 |
| Long eyelashes |
21.4% |
3/14 |
| Thick eyebrow |
21.4% |
3/14 |
| Absent thumbnail |
14.3% |
2/14 |
| Hypoplastic toenails |
14.3% |
2/14 |
| Hypoplastic fingernail |
14.3% |
2/14 |
| Abnormality of the nipple |
7.1% |
1/14 |
| Abnormality of the toenails |
7.1% |
1/14 |
| Absent fingernail |
7.1% |
1/14 |
| Absent toenail |
7.1% |
1/14 |
| Aplastic/hypoplastic toenail |
7.1% |
1/14 |
| Coarse hair |
7.1% |
1/14 |
| High anterior hairline |
7.1% |
1/14 |
| Mongolian blue spot |
7.1% |
1/14 |
| Single transverse palmar crease |
7.1% |
1/14 |
| Thick hair |
7.1% |
1/14 |
| Wide intermamillary distance |
7.1% |
1/14 |