| Gender |
|
|
| Male |
28.6% |
2/7 |
| Female |
71.4% |
5/7 |
| General |
|
|
| Birth Length abnormalities |
14.3% |
1/7 |
| > P98 : Birth length greater than 97th percentile |
14.3% |
1/7 |
| Birth Weight abnormalities |
14.3% |
1/7 |
| > P98 : Large for gestational age |
14.3% |
1/7 |
| Birth Head circumference abnormalities |
28.6% |
2/7 |
| > P98 : Macrocephaly at birth |
28.6% |
2/7 |
| Current Height abnormalities |
14.3% |
1/7 |
| > P98 : Tall stature |
14.3% |
1/7 |
| Current Weight abnormalities |
28.6% |
2/7 |
| > P98 : Increased body weight |
14.3% |
1/7 |
| < P3 : Decreased body weight |
14.3% |
1/7 |
| Current Head circumference abnormalities |
28.6% |
2/7 |
| > P98 : Macrocephaly |
28.6% |
2/7 |
| Neurology |
|
|
| Neurological abnormalities |
85.7% |
6/7 |
| Muscular hypotonia |
42.9% |
3/7 |
| Brisk reflexes |
14.3% |
1/7 |
| Delayed speech and language development |
14.3% |
1/7 |
| Generalized hypotonia |
14.3% |
1/7 |
| Hypertonia |
14.3% |
1/7 |
| Hyporeflexia |
14.3% |
1/7 |
| Lower limb hypertonia |
14.3% |
1/7 |
| Neurodevelopmental delay |
14.3% |
1/7 |
| Seizures |
14.3% |
1/7 |
| Toe walking |
14.3% |
1/7 |
| Behavioral problems |
28.6% |
2/7 |
| Hallucinations |
14.3% |
1/7 |
| Psychotic episodes |
14.3% |
1/7 |
| Brain abnormality |
33.3% |
2/6 |
| Agenesis of corpus callosum |
16.7% |
1/6 |
| Ventriculomegaly |
16.7% |
1/6 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
42.9% |
3/7 |
| Abnormality of the pinna |
14.3% |
1/7 |
| Cupped ear |
14.3% |
1/7 |
| Long ear |
14.3% |
1/7 |
| Protruding ear |
14.3% |
1/7 |
| Squared superior portion of helix |
14.3% |
1/7 |
| Uplifted earlobe |
14.3% |
1/7 |
| Abnormality of the eye |
42.9% |
3/7 |
| Downslanted palpebral fissures |
14.3% |
1/7 |
| Epicanthus |
14.3% |
1/7 |
| Hypertelorism |
14.3% |
1/7 |
| Periorbital fullness |
14.3% |
1/7 |
| Abnormality of the nose |
85.7% |
6/7 |
| Broad nasal tip |
57.1% |
4/7 |
| Depressed nasal bridge |
28.6% |
2/7 |
| Prominent nose |
28.6% |
2/7 |
| Anteverted nares |
14.3% |
1/7 |
| Bulbous nose |
14.3% |
1/7 |
| Thick nasal alae |
14.3% |
1/7 |
| Wide nasal base |
14.3% |
1/7 |
| Wide nasal bridge |
14.3% |
1/7 |
| Abnormality of the mouth |
85.7% |
6/7 |
| Gingival overgrowth |
57.1% |
4/7 |
| High palate |
42.9% |
3/7 |
| Thick vermilion border |
42.9% |
3/7 |
| Thick lower lip vermilion |
28.6% |
2/7 |
| Long philtrum |
14.3% |
1/7 |
| Misalignment of teeth |
14.3% |
1/7 |
| Retrognathia |
14.3% |
1/7 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
14.3% |
1/7 |
| Hyperacusis |
14.3% |
1/7 |
| Abnormal vision |
42.9% |
3/7 |
| Abnormality of the optic disc |
14.3% |
1/7 |
| Hypermetropia |
14.3% |
1/7 |
| Strabismus |
14.3% |
1/7 |
| Heart |
|
|
| Abnormality of the heart |
57.1% |
4/7 |
| Patent ductus arteriosus |
42.9% |
3/7 |
| Abnormality of the left ventricle |
14.3% |
1/7 |
| Abnormality of the coronary arteries |
14.3% |
1/7 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
28.6% |
2/7 |
| Episodic vomiting |
14.3% |
1/7 |
| Microcolon |
14.3% |
1/7 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
14.3% |
1/7 |
| Hypospadias |
14.3% |
1/7 |
| Skeleton |
|
|
| Skeletal abnormalities |
100.0% |
7/7 |
| Long hallux |
28.6% |
2/7 |
| Short distal phalanx of finger |
28.6% |
2/7 |
| Shortening of all distal phalanges of the fingers |
28.6% |
2/7 |
| Shortening of all distal phalanges of the toes |
28.6% |
2/7 |
| Tapered finger |
28.6% |
2/7 |
| Abnormality of the distal phalanx of the hallux |
14.3% |
1/7 |
| Absent distal phalanx of the 2nd toe |
14.3% |
1/7 |
| Aplasia of the distal phalanx of the 5th toe |
14.3% |
1/7 |
| Aplasia/Hypoplasia of the distal phalanges of the hand |
14.3% |
1/7 |
| Aplasia/Hypoplasia of the phalanges of the hand |
14.3% |
1/7 |
| Broad hallux |
14.3% |
1/7 |
| Clinodactyly |
14.3% |
1/7 |
| Flexion contracture |
14.3% |
1/7 |
| Hypoplasia of the phalanges of the toes |
14.3% |
1/7 |
| Short metacarpal |
14.3% |
1/7 |
| Thoracolumbar kyphoscoliosis |
14.3% |
1/7 |
| Triphalangeal thumb |
14.3% |
1/7 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
100.0% |
7/7 |
| Hypoplastic fingernail |
71.4% |
5/7 |
| Absent toenail |
42.9% |
3/7 |
| Long eyelashes |
42.9% |
3/7 |
| Low anterior hairline |
42.9% |
3/7 |
| Synophrys |
42.9% |
3/7 |
| Absent thumbnail |
28.6% |
2/7 |
| Facial hypertrichosis |
28.6% |
2/7 |
| Hypertrichosis |
28.6% |
2/7 |
| Hypoplastic toenails |
28.6% |
2/7 |
| Prominent eyelashes |
28.6% |
2/7 |
| Small nail |
28.6% |
2/7 |
| Thick hair |
28.6% |
2/7 |
| Abnormal palmar dermatoglyphics |
14.3% |
1/7 |
| Absent fifth fingernail |
14.3% |
1/7 |
| Aplastic/hypoplastic toenail |
14.3% |
1/7 |
| Concave nail |
14.3% |
1/7 |
| Hypoplastic thumbnail |
14.3% |
1/7 |
| Low posterior hairline |
14.3% |
1/7 |
| Soft skin |
14.3% |
1/7 |
| Supernumerary nipple |
14.3% |
1/7 |
| Thick eyebrow |
14.3% |
1/7 |
| Thoracic hypertrichosis |
14.3% |
1/7 |