| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 21/21 |
| Female | 0% | 0/21 |
| General | ||
| Birth Length abnormalities | 14.3% | 3/21 |
| > P98 : Birth length greater than 97th percentile | 14.3% | 3/21 |
| Birth Weight abnormalities | 23.8% | 5/21 |
| < P3 : Small for gestational age | 4.8% | 1/21 |
| > P98 : Large for gestational age | 19.0% | 4/21 |
| Birth Head circumference abnormalities | 23.8% | 5/21 |
| > P98 : Macrocephaly at birth | 23.8% | 5/21 |
| Current Height abnormalities | 28.6% | 6/21 |
| > P98 : Tall stature | 19.0% | 4/21 |
| < P3 : Short stature | 9.5% | 2/21 |
| Current Weight abnormalities | 61.9% | 13/21 |
| > P98 : Increased body weight | 52.4% | 11/21 |
| < P3 : Decreased body weight | 9.5% | 2/21 |
| Current Head circumference abnormalities | 90.5% | 19/21 |
| > P98 : Macrocephaly | 90.5% | 19/21 |
| Neurology | ||
| Neurological abnormalities | 35.7% | 5/14 |
| Delayed fine motor development | 7.1% | 1/14 |
| Delayed speech and language development | 7.1% | 1/14 |
| Focal-onset seizure | 7.1% | 1/14 |
| Generalized hypotonia | 7.1% | 1/14 |
| Global developmental delay | 7.1% | 1/14 |
| Intellectual disability | 7.1% | 1/14 |
| Migraine | 7.1% | 1/14 |
| Seizure | 7.1% | 1/14 |
| Behavioral problems | 88.2% | 15/17 |
| Attention deficit hyperactivity disorder | 52.9% | 9/17 |
| Aggressive behavior | 29.4% | 5/17 |
| Autism | 11.8% | 2/17 |
| Autistic behavior | 11.8% | 2/17 |
| Excessive shyness | 11.8% | 2/17 |
| Brain abnormality | 14.3% | 2/14 |
| Chiari type I malformation | 7.1% | 1/14 |
| Colpocephaly | 7.1% | 1/14 |
| Macrocephaly | 7.1% | 1/14 |
| Ventriculomegaly | 7.1% | 1/14 |
| Facial abnormalities | ||
| Abnormality of the ear | 53.8% | 7/13 |
| Prominent ear helix | 23.1% | 3/13 |
| Cupped ear | 15.4% | 2/13 |
| Large earlobe | 7.7% | 1/13 |
| Low-set ears | 7.7% | 1/13 |
| Macrotia | 7.7% | 1/13 |
| Posteriorly rotated ears | 7.7% | 1/13 |
| Protruding ear | 7.7% | 1/13 |
| Abnormality of the eye | 57.1% | 8/14 |
| Deeply set eye | 14.3% | 2/14 |
| Narrow palpebral fissure | 14.3% | 2/14 |
| Thick eyebrow | 14.3% | 2/14 |
| Abnormal eyebrow morphology | 7.1% | 1/14 |
| Strabismus | 7.1% | 1/14 |
| Unilateral ptosis | 7.1% | 1/14 |
| Abnormality of the nose | 38.5% | 5/13 |
| Anteverted nares | 15.4% | 2/13 |
| Short nose | 15.4% | 2/13 |
| Broad nasal tip | 7.7% | 1/13 |
| Narrow nose | 7.7% | 1/13 |
| Wide nose | 7.7% | 1/13 |
| Abnormality of the mouth | 38.5% | 5/13 |
| Narrow mouth | 7.7% | 1/13 |
| Non-midline cleft of the upper lip | 7.7% | 1/13 |
| Short philtrum | 7.7% | 1/13 |
| Thick upper lip vermilion | 7.7% | 1/13 |
| Thick lower lip vermilion | 7.7% | 1/13 |
| Visual and hearing impairments | ||
| Abnormal hearing | 7.1% | 1/14 |
| Bilateral sensorineural hearing impairment | 7.1% | 1/14 |
| Abnormal vision | 23.1% | 3/13 |
| Strabismus | 7.7% | 1/13 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 7.1% | 1/14 |
| Barrett esophagus | 7.1% | 1/14 |
| Urogenital | ||
| Abnormality of the urogenital system | 46.7% | 7/15 |
| Unilateral cryptorchidism | 26.7% | 4/15 |
| Bilateral cryptorchidism | 13.3% | 2/15 |
| Cryptorchidism | 6.7% | 1/15 |
| Micropenis | 6.7% | 1/15 |
| Skeleton | ||
| Skeletal abnormalities | 53.3% | 8/15 |
| Joint hypermobility | 20.0% | 3/15 |
| Abnormal thumb morphology | 6.7% | 1/15 |
| Adducted thumb | 6.7% | 1/15 |
| Brachydactyly | 6.7% | 1/15 |
| Dental crowding | 6.7% | 1/15 |
| Hyperextensibility of the finger joints | 6.7% | 1/15 |
| Kyphoscoliosis | 6.7% | 1/15 |
| Large hands | 6.7% | 1/15 |
| Pectus excavatum | 6.7% | 1/15 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 21.4% | 3/14 |
| obsolete Joint laxity | 14.3% | 2/14 |
| Facial hemangioma | 7.1% | 1/14 |
| Shortening of all distal phalanges of the fingers | 7.1% | 1/14 |
| Short finger | 7.1% | 1/14 |
| Widened distal phalanges | 7.1% | 1/14 |
| Neoplasia | ||
| Neoplasia | 7.1% | 1/14 |
| Leukemia | 7.1% | 1/14 |