| Gender |
|
|
| Male |
70.0% |
14/20 |
| Female |
30.0% |
6/20 |
| General |
|
|
| Motor delay |
85.0% |
17/20 |
| Motor delay |
70.0% |
14/20 |
| Speech delay |
100.0% |
20/20 |
| Delayed speech and language development |
75.0% |
15/20 |
| Intellectual disabillity |
83.3% |
15/18 |
| Intellectual disability |
55.6% |
10/18 |
| Neurology |
|
|
| Neurological abnormalities |
60.0% |
12/20 |
| Muscular hypotonia |
35.0% |
7/20 |
| Gait disturbance |
15.0% |
3/20 |
| Seizures |
10.0% |
2/20 |
| Absence seizures |
5.0% |
1/20 |
| Apraxia |
5.0% |
1/20 |
| Bradykinesia |
5.0% |
1/20 |
| Clumsiness |
5.0% |
1/20 |
| Cognitive impairment |
5.0% |
1/20 |
| Epileptic encephalopathy |
5.0% |
1/20 |
| Falls |
5.0% |
1/20 |
| Focal seizures |
5.0% |
1/20 |
| Incoordination |
5.0% |
1/20 |
| Neurological speech impairment |
5.0% |
1/20 |
| Spasticity |
5.0% |
1/20 |
| Spastic gait |
5.0% |
1/20 |
| Torticollis |
5.0% |
1/20 |
| Behavioral problems |
60.0% |
12/20 |
| Autistic behavior |
30.0% |
6/20 |
| Aggressive behavior |
20.0% |
4/20 |
| Autism |
20.0% |
4/20 |
| Obsessive-compulsive trait |
15.0% |
3/20 |
| Abnormal social behavior |
10.0% |
2/20 |
| Abnormal emotion/affect behavior |
5.0% |
1/20 |
| Absent speech |
5.0% |
1/20 |
| Attention deficit hyperactivity disorder |
5.0% |
1/20 |
| Perseveration |
5.0% |
1/20 |
| Psychotic episodes |
5.0% |
1/20 |
| Stereotypic behavior |
5.0% |
1/20 |
| Urinary incontinence |
5.0% |
1/20 |
| Brain abnormality |
45.5% |
5/11 |
| Abnormality of the periventricular white matter |
9.1% |
1/11 |
| Arachnoid cyst |
9.1% |
1/11 |
| Cerebral hypomyelination |
9.1% |
1/11 |
| Enlarged cisterna magna |
9.1% |
1/11 |
| Hydrocephalus |
9.1% |
1/11 |
| Posterior fossa cyst |
9.1% |
1/11 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
20.0% |
4/20 |
| Protruding ear |
10.0% |
2/20 |
| Low-set ears |
5.0% |
1/20 |
| Macrotia |
5.0% |
1/20 |
| Abnormality of the eye |
70.0% |
14/20 |
| Deeply set eye |
40.0% |
8/20 |
| Periorbital hyperpigmentation |
35.0% |
7/20 |
| Prominent supraorbital ridges |
20.0% |
4/20 |
| Downslanted palpebral fissures |
10.0% |
2/20 |
| Upslanted palpebral fissure |
10.0% |
2/20 |
| Blue irides |
5.0% |
1/20 |
| Epicanthus |
5.0% |
1/20 |
| Hypertelorism |
5.0% |
1/20 |
| Hypotelorism |
5.0% |
1/20 |
| Microphthalmia |
5.0% |
1/20 |
| Ptosis |
5.0% |
1/20 |
| Abnormality of the nose |
55.0% |
11/20 |
| Bulbous nose |
35.0% |
7/20 |
| Depressed nasal bridge |
25.0% |
5/20 |
| Broad nasal tip |
5.0% |
1/20 |
| Prominent nasal bridge |
5.0% |
1/20 |
| Wide nasal bridge |
5.0% |
1/20 |
| Abnormality of the mouth |
60.0% |
12/20 |
| Thick vermilion border |
30.0% |
6/20 |
| Exaggerated cupid's bow |
10.0% |
2/20 |
| Bifid uvula |
5.0% |
1/20 |
| Hypodontia |
5.0% |
1/20 |
| Increased number of teeth |
5.0% |
1/20 |
| Irregularly spaced teeth |
5.0% |
1/20 |
| Macrodontia of permanent maxillary central incisor |
5.0% |
1/20 |
| Retrognathia |
5.0% |
1/20 |
| Submucous cleft soft palate |
5.0% |
1/20 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
20.0% |
4/20 |
| Hypermetropia |
10.0% |
2/20 |
| Strabismus |
10.0% |
2/20 |
| Amblyopia |
5.0% |
1/20 |
| Esotropia |
5.0% |
1/20 |
| Myopia |
5.0% |
1/20 |
| Heart |
|
|
| Abnormality of the heart |
15.0% |
3/20 |
| Atrioventricular canal defect |
5.0% |
1/20 |
| Heart murmur |
5.0% |
1/20 |
| Tricuspid regurgitation |
5.0% |
1/20 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
5.0% |
1/20 |
| Constipation |
5.0% |
1/20 |
| Gastroesophageal reflux |
5.0% |
1/20 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
25.0% |
5/20 |
| Unilateral cryptorchidism |
10.0% |
2/20 |
| Abnormality of the testis |
5.0% |
1/20 |
| Neurogenic bladder |
5.0% |
1/20 |
| Spastic/hyperactive bladder |
5.0% |
1/20 |
| Skeleton |
|
|
| Skeletal abnormalities |
50.0% |
10/20 |
| Joint laxity |
15.0% |
3/20 |
| Pes planus |
10.0% |
2/20 |
| Camptodactyly |
5.0% |
1/20 |
| Clinodactyly of the 5th toe |
5.0% |
1/20 |
| Clinodactyly of the 4th toe |
5.0% |
1/20 |
| Kyphoscoliosis |
5.0% |
1/20 |
| Scoliosis |
5.0% |
1/20 |
| Shoulder subluxation |
5.0% |
1/20 |
| Subluxation of the small joints of the hand |
5.0% |
1/20 |
| Tapered finger |
5.0% |
1/20 |
| 2-3 toe syndactyly |
5.0% |
1/20 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
60.0% |
12/20 |
| High anterior hairline |
45.0% |
9/20 |
| Prominent fingertip pads |
10.0% |
2/20 |
| Sparse eyebrow |
10.0% |
2/20 |
| Thick eyebrow |
10.0% |
2/20 |
| Abdominal obesity |
5.0% |
1/20 |
| Abnormality of subcutaneous fat tissue |
5.0% |
1/20 |
| Acanthosis nigricans |
5.0% |
1/20 |
| Few cafe-au-lait spots |
5.0% |
1/20 |
| Hypertrichosis |
5.0% |
1/20 |
| Inverted nipples |
5.0% |
1/20 |
| Localized skin lesion |
5.0% |
1/20 |
| Single transverse palmar crease |
5.0% |
1/20 |
| Supernumerary nipple |
5.0% |
1/20 |
| Synophrys |
5.0% |
1/20 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
5.0% |
1/20 |
| Hypothyroidism |
5.0% |
1/20 |
| Abnormality of the immune system |
15.0% |
3/20 |
| Recurrent urinary tract infections |
10.0% |
2/20 |
| Recurrent infections of the middle ear |
5.0% |
1/20 |