| Gender |
|
|
| Male |
46.2% |
6/13 |
| Female |
53.8% |
7/13 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/13 |
| Birth Weight abnormalities |
7.7% |
1/13 |
| < P3 : Small for gestational age |
7.7% |
1/13 |
| Birth Head circumference abnormalities |
0% |
0/13 |
| Current Height abnormalities |
0% |
0/13 |
| Current Weight abnormalities |
0% |
0/13 |
| Current Head circumference abnormalities |
0% |
0/13 |
| Neurology |
|
|
| Neurological abnormalities |
84.6% |
11/13 |
| Hypotonia |
61.5% |
8/13 |
| Limb tremor |
15.4% |
2/13 |
| Limb dysmetria |
7.7% |
1/13 |
| Postural instability |
7.7% |
1/13 |
| Tremor |
7.7% |
1/13 |
| Behavioral problems |
33.3% |
4/12 |
| Atypical behavior |
16.7% |
2/12 |
| Autism |
8.3% |
1/12 |
| Overfriendliness |
8.3% |
1/12 |
| Brain abnormality |
66.7% |
6/9 |
| Hypoplasia of the corpus callosum |
44.4% |
4/9 |
| Abnormal cortical gyration |
22.2% |
2/9 |
| Cerebral hypomyelination |
22.2% |
2/9 |
| Abnormal cerebral white matter morphology |
11.1% |
1/9 |
| Lateral ventricular asymmetry |
11.1% |
1/9 |
| Widened cerebral subarachnoid space |
11.1% |
1/9 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
100.0% |
13/13 |
| Low-set ears |
76.9% |
10/13 |
| Attached earlobe |
23.1% |
3/13 |
| Protruding ear |
23.1% |
3/13 |
| Anterior creases of earlobe |
7.7% |
1/13 |
| Abnormality of the eye |
92.3% |
12/13 |
| Ptosis |
76.9% |
10/13 |
| Epicanthus |
53.8% |
7/13 |
| Short palpebral fissure |
53.8% |
7/13 |
| Downslanted palpebral fissures |
30.8% |
4/13 |
| Microphthalmia |
23.1% |
3/13 |
| Sclerocornea |
23.1% |
3/13 |
| Hypertelorism |
15.4% |
2/13 |
| Peters anomaly |
15.4% |
2/13 |
| Corneal opacity |
7.7% |
1/13 |
| Pigmentary retinopathy |
7.7% |
1/13 |
| Upslanted palpebral fissure |
7.7% |
1/13 |
| Abnormality of the nose |
90.9% |
10/11 |
| Underdeveloped nasal alae |
63.6% |
7/11 |
| Wide nasal bridge |
45.5% |
5/11 |
| Broad nasal tip |
27.3% |
3/11 |
| Concave nasal ridge |
27.3% |
3/11 |
| Narrow nasal base |
27.3% |
3/11 |
| Absent nasal cartilage |
9.1% |
1/11 |
| Anteverted nares |
9.1% |
1/11 |
| Deviated nasal septum |
9.1% |
1/11 |
| Hyposmia |
9.1% |
1/11 |
| Wide nasal base |
9.1% |
1/11 |
| Abnormality of the mouth |
100.0% |
13/13 |
| Exaggerated cupid's bow |
92.3% |
12/13 |
| Downturned corners of mouth |
53.8% |
7/13 |
| Micrognathia |
53.8% |
7/13 |
| Cleft soft palate |
23.1% |
3/13 |
| Everted upper lip vermilion |
23.1% |
3/13 |
| High palate |
23.1% |
3/13 |
| Thin upper lip vermilion |
15.4% |
2/13 |
| Abnormality of the dentition |
7.7% |
1/13 |
| Cleft palate |
7.7% |
1/13 |
| Malar flattening |
7.7% |
1/13 |
| Persistence of primary teeth |
7.7% |
1/13 |
| Tented upper lip vermilion |
7.7% |
1/13 |
| Thin vermilion border |
7.7% |
1/13 |
| Triangular-shaped open mouth |
7.7% |
1/13 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
46.2% |
6/13 |
| Hearing impairment |
15.4% |
2/13 |
| Sensorineural hearing impairment |
15.4% |
2/13 |
| Hyperacusis |
7.7% |
1/13 |
| Mixed hearing impairment |
7.7% |
1/13 |
| Abnormal vision |
90.9% |
10/11 |
| Myopia |
36.4% |
4/11 |
| Strabismus |
36.4% |
4/11 |
| Astigmatism |
18.2% |
2/11 |
| Cataract |
9.1% |
1/11 |
| Duane anomaly |
9.1% |
1/11 |
| Glaucoma |
9.1% |
1/11 |
| Nystagmus |
9.1% |
1/11 |
| Sclerocornea |
9.1% |
1/11 |
| Visual impairment |
9.1% |
1/11 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
7.7% |
1/13 |
| Umbilical hernia |
7.7% |
1/13 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
30.8% |
4/13 |
| Cryptorchidism |
15.4% |
2/13 |
| Bilateral cryptorchidism |
7.7% |
1/13 |
| Enlarged kidney |
7.7% |
1/13 |
| Hydrocele testis |
7.7% |
1/13 |
| Micropenis |
7.7% |
1/13 |
| Ventral shortening of foreskin |
7.7% |
1/13 |
| Skeleton |
|
|
| Skeletal abnormalities |
46.2% |
6/13 |
| Broad hallux |
23.1% |
3/13 |
| Short 2nd metacarpal |
23.1% |
3/13 |
| Hallux valgus |
15.4% |
2/13 |
| Brachydactyly |
7.7% |
1/13 |
| Broad first metatarsal |
7.7% |
1/13 |
| Curved toe phalanx |
7.7% |
1/13 |
| Large fontanelles |
7.7% |
1/13 |
| Limitation of knee mobility |
7.7% |
1/13 |
| Long toe |
7.7% |
1/13 |
| Pes planus |
7.7% |
1/13 |
| Short foot |
7.7% |
1/13 |
| Slender long bone |
7.7% |
1/13 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
46.2% |
6/13 |
| 3-4 finger osseus syndactyly |
15.4% |
2/13 |
| Abnormality of the palmar creases |
7.7% |
1/13 |
| Eczematoid dermatitis |
7.7% |
1/13 |
| Sacral dimple |
7.7% |
1/13 |
| Single transverse palmar crease |
7.7% |
1/13 |
| Thickened nuchal skin fold |
7.7% |
1/13 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
7.7% |
1/13 |
| Hypothyroidism |
7.7% |
1/13 |
| Abnormality of the metabolic system |
7.7% |
1/13 |
| Recurrent hypoglycemia |
7.7% |
1/13 |