| Gender |
|
|
| Male |
56.3% |
9/16 |
| Female |
43.8% |
7/16 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/0 |
| Birth Weight abnormalities |
0% |
0/0 |
| Birth Head circumference abnormalities |
0% |
0/0 |
| Current Height abnormalities |
12.5% |
2/16 |
| > P98 : Tall stature |
6.3% |
1/16 |
| < P3 : Short stature |
6.3% |
1/16 |
| Current Weight abnormalities |
12.5% |
2/16 |
| > P98 : Increased body weight |
6.3% |
1/16 |
| < P3 : Decreased body weight |
6.3% |
1/16 |
| Current Head circumference abnormalities |
50.0% |
8/16 |
| > P98 : Macrocephaly |
12.5% |
2/16 |
| < P3 : Microcephaly |
37.5% |
6/16 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
16/16 |
| Global developmental delay |
100.0% |
16/16 |
| Severe expressive language delay |
62.5% |
10/16 |
| Generalized hypotonia |
50.0% |
8/16 |
| Generalized tonic-clonic seizures |
37.5% |
6/16 |
| Developmental regression |
12.5% |
2/16 |
| Epileptic encephalopathy |
12.5% |
2/16 |
| Febrile seizures |
12.5% |
2/16 |
| Focal seizures |
12.5% |
2/16 |
| Muscular hypotonia of the trunk |
12.5% |
2/16 |
| Abnormal head movements |
6.3% |
1/16 |
| Absence seizures with eyelid myoclonia |
6.3% |
1/16 |
| Absence seizures |
6.3% |
1/16 |
| Broad-based gait |
6.3% |
1/16 |
| Chorea |
6.3% |
1/16 |
| Confusion |
6.3% |
1/16 |
| Delayed fine motor development |
6.3% |
1/16 |
| Hypertonia |
6.3% |
1/16 |
| Hypsarrhythmia |
6.3% |
1/16 |
| Infantile axial hypotonia |
6.3% |
1/16 |
| Limb tremor |
6.3% |
1/16 |
| Seizures |
6.3% |
1/16 |
| Severe receptive language delay |
6.3% |
1/16 |
| Status epilepticus |
6.3% |
1/16 |
| Torticollis |
6.3% |
1/16 |
| Transient psychotic episodes |
6.3% |
1/16 |
| Unilateral multifocal epileptiform discharges |
6.3% |
1/16 |
| Weakness of facial musculature |
6.3% |
1/16 |
| Behavioral problems |
60.0% |
9/15 |
| Autism |
26.7% |
4/15 |
| Attention deficit hyperactivity disorder |
13.3% |
2/15 |
| Stereotypic behavior |
13.3% |
2/15 |
| Abnormal emotion/affect behavior |
6.7% |
1/15 |
| Aggressive behavior |
6.7% |
1/15 |
| Autistic behavior |
6.7% |
1/15 |
| Behavioral abnormality |
6.7% |
1/15 |
| Poor eye contact |
6.7% |
1/15 |
| Self-mutilation |
6.7% |
1/15 |
| Sleep disturbance |
6.7% |
1/15 |
| Brain abnormality |
62.5% |
10/16 |
| Ventriculomegaly |
18.8% |
3/16 |
| Abnormality of the corpus callosum |
12.5% |
2/16 |
| Abnormality of the pons |
12.5% |
2/16 |
| Cerebral atrophy |
12.5% |
2/16 |
| Cerebellar atrophy |
12.5% |
2/16 |
| EEG with generalized sharp slow waves |
12.5% |
2/16 |
| EEG with generalized spikes |
12.5% |
2/16 |
| Widened subarachnoid space |
12.5% |
2/16 |
| Abnormality of the optic nerve |
6.3% |
1/16 |
| Abnormality of hindbrain morphology |
6.3% |
1/16 |
| Abnormality of the cerebral white matter |
6.3% |
1/16 |
| Cerebral hypomyelination |
6.3% |
1/16 |
| Choroid plexus cyst |
6.3% |
1/16 |
| Corpus callosum atrophy |
6.3% |
1/16 |
| Delayed myelination |
6.3% |
1/16 |
| Dilation of lateral ventricles |
6.3% |
1/16 |
| Dilated third ventricle |
6.3% |
1/16 |
| EEG with centrotemporal focal spike waves |
6.3% |
1/16 |
| Generalized cerebral atrophy/hypoplasia |
6.3% |
1/16 |
| Hypoplasia of the corpus callosum |
6.3% |
1/16 |
| Olivopontocerebellar hypoplasia |
6.3% |
1/16 |
| Perivascular spaces |
6.3% |
1/16 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
18.8% |
3/16 |
| Abnormality of earlobe |
6.3% |
1/16 |
| Abnormality of the pinna |
6.3% |
1/16 |
| Anteverted ears |
6.3% |
1/16 |
| Low-set ears |
6.3% |
1/16 |
| Abnormality of the eye |
56.3% |
9/16 |
| Epicanthus |
12.5% |
2/16 |
| Megalocornea |
12.5% |
2/16 |
| Periorbital fullness |
12.5% |
2/16 |
| Proptosis |
12.5% |
2/16 |
| Abnormality of the conjunctiva |
6.3% |
1/16 |
| Almond-shaped palpebral fissure |
6.3% |
1/16 |
| Bilateral ptosis |
6.3% |
1/16 |
| Deeply set eye |
6.3% |
1/16 |
| Hypertelorism |
6.3% |
1/16 |
| Hypermetropia |
6.3% |
1/16 |
| Short palpebral fissure |
6.3% |
1/16 |
| Small palpebral fissure |
6.3% |
1/16 |
| Upslanted palpebral fissure |
6.3% |
1/16 |
| Abnormality of the nose |
43.8% |
7/16 |
| Bulbous nose |
31.3% |
5/16 |
| Asymmetry of the nares |
6.3% |
1/16 |
| Bifid nasal tip |
6.3% |
1/16 |
| Low hanging columella |
6.3% |
1/16 |
| Underdeveloped nasal alae |
6.3% |
1/16 |
| Wide nasal bridge |
6.3% |
1/16 |
| Abnormality of the mouth |
43.8% |
7/16 |
| Short philtrum |
18.8% |
3/16 |
| High palate |
12.5% |
2/16 |
| Everted lower lip vermilion |
6.3% |
1/16 |
| High, narrow palate |
6.3% |
1/16 |
| Misalignment of teeth |
6.3% |
1/16 |
| Narrow mouth |
6.3% |
1/16 |
| Thick upper lip vermilion |
6.3% |
1/16 |
| Thin upper lip vermilion |
6.3% |
1/16 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
6.7% |
1/15 |
| Bilateral sensorineural hearing impairment |
6.7% |
1/15 |
| Abnormal vision |
26.7% |
4/15 |
| Cortical visual impairment |
6.7% |
1/15 |
| Decreased corneal reflex |
6.7% |
1/15 |
| Impaired smooth pursuit |
6.7% |
1/15 |
| Retinopathy |
6.7% |
1/15 |
| Visual loss |
6.7% |
1/15 |
| Heart |
|
|
| Abnormality of the heart |
18.8% |
3/16 |
| Atria septal defect |
6.3% |
1/16 |
| Heart murmur |
6.3% |
1/16 |
| Muscular ventricular septal defect |
6.3% |
1/16 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
66.7% |
10/15 |
| Feeding difficulties |
53.3% |
8/15 |
| Feeding difficulties in infancy |
13.3% |
2/15 |
| Constipation |
6.7% |
1/15 |
| Diastasis recti |
6.7% |
1/15 |
| Dysphagia |
6.7% |
1/15 |
| Episodic vomiting |
6.7% |
1/15 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
6.7% |
1/15 |
| Urinary urgency |
6.7% |
1/15 |
| Skeleton |
|
|
| Skeletal abnormalities |
66.7% |
10/15 |
| Plagiocephaly |
20.0% |
3/15 |
| Adducted thumb |
13.3% |
2/15 |
| Abnormality of the distal phalanges of the toes |
6.7% |
1/15 |
| Abnormality of the 3rd finger |
6.7% |
1/15 |
| Clinodactyly of the 5th finger |
6.7% |
1/15 |
| Coxa valga |
6.7% |
1/15 |
| Generalized joint laxity |
6.7% |
1/15 |
| Hyperextensibility of the knee |
6.7% |
1/15 |
| Hyperlordosis |
6.7% |
1/15 |
| Joint hypermobility |
6.7% |
1/15 |
| Long toe |
6.7% |
1/15 |
| Long fingers |
6.7% |
1/15 |
| Micrognathia |
6.7% |
1/15 |
| obsolete Ulnar deviation of the thumb |
6.7% |
1/15 |
| Overlapping toe |
6.7% |
1/15 |
| Ovoid vertebral bodies |
6.7% |
1/15 |
| Pes planus |
6.7% |
1/15 |
| Prominent metopic ridge |
6.7% |
1/15 |
| Reduced bone mineral density |
6.7% |
1/15 |
| Retrognathia |
6.7% |
1/15 |
| Sandal gap |
6.7% |
1/15 |
| Short 5th finger |
6.7% |
1/15 |
| Trigonocephaly |
6.7% |
1/15 |
| Ulnar deviation of the 2nd finger |
6.7% |
1/15 |
| Ulnar deviation of the 3rd finger |
6.7% |
1/15 |
| Ulnar deviation of the wrist |
6.7% |
1/15 |
| Ulnar deviation of the 4th finger |
6.7% |
1/15 |
| Ulnar deviation of the 5th finger |
6.7% |
1/15 |
| Widely patent fontanelles and sutures |
6.7% |
1/15 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
60.0% |
9/15 |
| Single transverse palmar crease |
33.3% |
5/15 |
| Bilateral single transverse palmar creases |
6.7% |
1/15 |
| Bridged palmar crease |
6.7% |
1/15 |
| Few cafe-au-lait spots |
6.7% |
1/15 |
| Freckling |
6.7% |
1/15 |
| Hemangioma |
6.7% |
1/15 |
| Hyperpigmented nevi |
6.7% |
1/15 |
| Multiple cafe-au-lait spots |
6.7% |
1/15 |
| Prominent fingertip pads |
6.7% |
1/15 |
| Sacral dimple |
6.7% |
1/15 |
| Trigonocephaly |
6.7% |
1/15 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
6.7% |
1/15 |
| Vitamin B12 deficiency |
6.7% |
1/15 |
| Abnormality of the immune system |
13.3% |
2/15 |
| Recurrent otitis media |
6.7% |
1/15 |
| Recurrent urinary tract infections |
6.7% |
1/15 |
| Recurrent infections in infancy and early childhood |
6.7% |
1/15 |
| Recurrent upper respiratory tract infections |
6.7% |
1/15 |
| Neoplasia |
|
|
| Neoplasia |
6.7% |
1/15 |
| Neoplasm of the skin |
6.7% |
1/15 |