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 |
Cerebellar atrophy |
12.5% |
2/16 |
Cerebral atrophy |
12.5% |
2/16 |
EEG with generalized spikes |
12.5% |
2/16 |
EEG with generalized sharp slow waves |
12.5% |
2/16 |
Widened subarachnoid space |
12.5% |
2/16 |
Abnormality of the cerebral white matter |
6.3% |
1/16 |
Abnormality of hindbrain morphology |
6.3% |
1/16 |
Abnormality of the optic nerve |
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 the pinna |
6.3% |
1/16 |
Abnormality of earlobe |
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 |
Hypermetropia |
6.3% |
1/16 |
Hypertelorism |
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 fingers |
6.7% |
1/15 |
Long toe |
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 wrist |
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 5th finger |
6.7% |
1/15 |
Ulnar deviation of the 4th 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 urinary tract infections |
6.7% |
1/15 |
Recurrent otitis media |
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 |