| Gender |
|
|
| Male |
42.3% |
11/26 |
| Female |
57.7% |
15/26 |
| General |
|
|
| Birth Length abnormalities |
4.0% |
1/25 |
| > P98 : Birth length greater than 97th percentile |
4.0% |
1/25 |
| Birth Weight abnormalities |
11.5% |
3/26 |
| > P98 : Large for gestational age |
7.7% |
2/26 |
| < P3 : Small for gestational age |
3.8% |
1/26 |
| Birth Head circumference abnormalities |
3.8% |
1/26 |
| < P3 : Congenital microcephaly |
3.8% |
1/26 |
| Current Height abnormalities |
26.9% |
7/26 |
| < P3 : Short stature |
23.1% |
6/26 |
| > P98 : Tall stature |
3.8% |
1/26 |
| Current Weight abnormalities |
26.9% |
7/26 |
| > P98 : Increased body weight |
23.1% |
6/26 |
| < P3 : Decreased body weight |
3.8% |
1/26 |
| Current Head circumference abnormalities |
23.1% |
6/26 |
| > P98 : Macrocephaly |
19.2% |
5/26 |
| < P3 : Microcephaly |
3.8% |
1/26 |
| Neurology |
|
|
| Neurological abnormalities |
92.3% |
24/26 |
| Muscular hypotonia |
53.8% |
14/26 |
| Oral motor hypotonia |
26.9% |
7/26 |
| Neurodevelopmental delay |
15.4% |
4/26 |
| Seizures |
15.4% |
4/26 |
| Abnormality of coordination |
3.8% |
1/26 |
| Cataplexy |
3.8% |
1/26 |
| Clumsiness |
3.8% |
1/26 |
| EEG abnormality |
3.8% |
1/26 |
| Expressive language delay |
3.8% |
1/26 |
| Generalized hypotonia |
3.8% |
1/26 |
| Hyporeflexia |
3.8% |
1/26 |
| Muscular hypotonia of the trunk |
3.8% |
1/26 |
| Speech articulation difficulties |
3.8% |
1/26 |
| Behavioral problems |
87.5% |
21/24 |
| Attention deficit hyperactivity disorder |
37.5% |
9/24 |
| Anxiety |
33.3% |
8/24 |
| Sleep disturbance |
33.3% |
8/24 |
| Autism |
16.7% |
4/24 |
| Self-injurious behavior |
8.3% |
2/24 |
| Abnormal aggressive, impulsive or violent behavior |
4.2% |
1/24 |
| Aggressive behavior |
4.2% |
1/24 |
| Agitation |
4.2% |
1/24 |
| Autistic behavior |
4.2% |
1/24 |
| Hyperactivity |
4.2% |
1/24 |
| Impaired social interactions |
4.2% |
1/24 |
| Irritability |
4.2% |
1/24 |
| Poor eye contact |
4.2% |
1/24 |
| Brain abnormality |
33.3% |
7/21 |
| Ventriculomegaly |
9.5% |
2/21 |
| Abnormality of nervous system morphology |
4.8% |
1/21 |
| Abnormality of brain morphology |
4.8% |
1/21 |
| Arachnoid cyst |
4.8% |
1/21 |
| Enlarged cisterna magna |
4.8% |
1/21 |
| Morphological abnormality of the central nervous system |
4.8% |
1/21 |
| Widened subarachnoid space |
4.8% |
1/21 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
47.8% |
11/23 |
| Posteriorly rotated ears |
17.4% |
4/23 |
| Prominent antihelix |
17.4% |
4/23 |
| Abnormality of the helix |
8.7% |
2/23 |
| Abnormality of the outer ear |
8.7% |
2/23 |
| Low-set ears |
8.7% |
2/23 |
| Preauricular pit |
8.7% |
2/23 |
| Preauricular skin tag |
4.3% |
1/23 |
| Stenosis of the external auditory canal |
4.3% |
1/23 |
| Abnormality of the eye |
100.0% |
24/24 |
| Deeply set eye |
41.7% |
10/24 |
| Strabismus |
33.3% |
8/24 |
| Hypertelorism |
25.0% |
6/24 |
| Long palpebral fissure |
25.0% |
6/24 |
| Epicanthus |
20.8% |
5/24 |
| Downslanted palpebral fissures |
16.7% |
4/24 |
| Ptosis |
16.7% |
4/24 |
| Long eyelashes |
12.5% |
3/24 |
| Bilateral ptosis |
4.2% |
1/24 |
| Horizontal eyebrow |
4.2% |
1/24 |
| Lacrimal duct stenosis |
4.2% |
1/24 |
| Orbital cyst |
4.2% |
1/24 |
| Telecanthus |
4.2% |
1/24 |
| Abnormality of the nose |
65.2% |
15/23 |
| Abnormality of the nasal bridge |
43.5% |
10/23 |
| Bulbous nose |
43.5% |
10/23 |
| Anteverted nares |
13.0% |
3/23 |
| Depressed nasal bridge |
4.3% |
1/23 |
| Flared nostrils |
4.3% |
1/23 |
| Abnormality of the mouth |
73.9% |
17/23 |
| Wide mouth |
39.1% |
9/23 |
| Thin upper lip vermilion |
21.7% |
5/23 |
| Abnormality of the teeth |
8.7% |
2/23 |
| Downturned corners of mouth |
8.7% |
2/23 |
| High palate |
8.7% |
2/23 |
| Long philtrum |
8.7% |
2/23 |
| Thick vermilion border |
8.7% |
2/23 |
| Abnormality of the gingiva |
4.3% |
1/23 |
| Ankyloglossia |
4.3% |
1/23 |
| Bifid tongue |
4.3% |
1/23 |
| Cleft palate |
4.3% |
1/23 |
| Dental crowding |
4.3% |
1/23 |
| Macroglossia |
4.3% |
1/23 |
| Macrodontia |
4.3% |
1/23 |
| Protruding tongue |
4.3% |
1/23 |
| Thick lower lip vermilion |
4.3% |
1/23 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
16.7% |
4/24 |
| Bilateral sensorineural hearing impairment |
4.2% |
1/24 |
| Hearing abnormality |
4.2% |
1/24 |
| Hyperacusis |
4.2% |
1/24 |
| Unilateral conductive hearing impairment |
4.2% |
1/24 |
| Abnormal vision |
56.5% |
13/23 |
| Strabismus |
34.8% |
8/23 |
| Myopia |
17.4% |
4/23 |
| Astigmatism |
13.0% |
3/23 |
| Hypermetropia |
8.7% |
2/23 |
| Reduced visual acuity |
8.7% |
2/23 |
| Amblyopia |
4.3% |
1/23 |
| Cortical visual impairment |
4.3% |
1/23 |
| Hyperopic astigmatism |
4.3% |
1/23 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
58.3% |
14/24 |
| Feeding difficulties |
37.5% |
9/24 |
| Constipation |
25.0% |
6/24 |
| Gastroesophageal reflux |
12.5% |
3/24 |
| Chronic constipation |
8.3% |
2/24 |
| Abdominal symptom |
4.2% |
1/24 |
| Bowel incontinence |
4.2% |
1/24 |
| Dysphagia |
4.2% |
1/24 |
| Hiatus hernia |
4.2% |
1/24 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
27.3% |
6/22 |
| Abnormality of the kidney |
4.5% |
1/22 |
| Enuresis nocturna |
4.5% |
1/22 |
| Hydronephrosis |
4.5% |
1/22 |
| Pelvic kidney |
4.5% |
1/22 |
| Phimosis |
4.5% |
1/22 |
| Ureter duplex |
4.5% |
1/22 |
| Skeleton |
|
|
| Skeletal abnormalities |
75.0% |
18/24 |
| Short digit |
29.2% |
7/24 |
| Pes planus |
25.0% |
6/24 |
| Tapered finger |
20.8% |
5/24 |
| Valgus foot deformity |
20.8% |
5/24 |
| Brachycephaly |
12.5% |
3/24 |
| Short toe |
12.5% |
3/24 |
| Wide anterior fontanel |
12.5% |
3/24 |
| Sandal gap |
8.3% |
2/24 |
| Short foot |
8.3% |
2/24 |
| Aplasia/Hypoplasia of fingers |
4.2% |
1/24 |
| Brachydactyly syndrome |
4.2% |
1/24 |
| Broad thumb |
4.2% |
1/24 |
| Broad finger |
4.2% |
1/24 |
| Broad hallux |
4.2% |
1/24 |
| Clinodactyly of the 5th finger |
4.2% |
1/24 |
| Cutaneous finger syndactyly |
4.2% |
1/24 |
| Delayed cranial suture closure |
4.2% |
1/24 |
| Ectopic accessory finger-like appendage |
4.2% |
1/24 |
| Finger clinodactyly |
4.2% |
1/24 |
| Hallux valgus |
4.2% |
1/24 |
| Hip dysplasia |
4.2% |
1/24 |
| Kyphosis |
4.2% |
1/24 |
| Limitation of movement at ankles |
4.2% |
1/24 |
| Plagiocephaly |
4.2% |
1/24 |
| Short 5th metacarpal |
4.2% |
1/24 |
| Small hand |
4.2% |
1/24 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
40.9% |
9/22 |
| Hirsutism |
18.2% |
4/22 |
| Hyperkeratosis pilaris |
9.1% |
2/22 |
| Low posterior hairline |
9.1% |
2/22 |
| Aplasia/Hypoplasia of the nails |
4.5% |
1/22 |
| Generalized hirsutism |
4.5% |
1/22 |
| Hypertrichosis |
4.5% |
1/22 |
| Sparse hair |
4.5% |
1/22 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
13.6% |
3/22 |
| Growth hormone deficiency |
9.1% |
2/22 |
| Delayed puberty |
4.5% |
1/22 |
| Abnormality of the metabolic system |
17.4% |
4/23 |
| Abnormality of mitochondrial metabolism |
4.3% |
1/23 |
| Hypoglycemia |
4.3% |
1/23 |
| Mildly elevated creatine phosphokinase |
4.3% |
1/23 |
| Mucopolysacchariduria |
4.3% |
1/23 |
| Abnormality of the immune system |
9.1% |
2/22 |
| IgG deficiency |
4.5% |
1/22 |
| Leukopenia |
4.5% |
1/22 |