Percentage | Cases | |
---|---|---|
Gender | ||
Male | 31.6% | 6/19 |
Female | 68.4% | 13/19 |
Indifferent | 0% | 0/19 |
Unknown | 0% | 0/19 |
General | ||
Birth Length abnormalities | 0% | 0/2 |
Birth Weight abnormalities | 12.5% | 2/16 |
> P98 : Large for gestational age | 12.5% | 2/16 |
Birth Head circumference abnormalities | 0% | 0/2 |
Current Height abnormalities | 17.6% | 3/17 |
< P3 : Short stature | 17.6% | 3/17 |
Current Weight abnormalities | 28.6% | 4/14 |
> P98 : Increased body weight | 28.6% | 4/14 |
Current Head circumference abnormalities | 41.2% | 7/17 |
< P3 : Microcephaly | 41.2% | 7/17 |
Neurology | ||
Neurological abnormalities | 100.0% | 19/19 |
Muscular hypotonia | 100.0% | 19/19 |
Seizures | 26.3% | 5/19 |
Inability to walk | 5.3% | 1/19 |
Behavioral problems | 78.9% | 15/19 |
Behavioral abnormality | 78.9% | 15/19 |
Apathy | 5.3% | 1/19 |
Sleep disturbance | 5.3% | 1/19 |
Brain abnormality | 56.3% | 9/16 |
Abnormality of brain morphology | 50.0% | 8/16 |
Abnormality of the cerebral white matter | 6.3% | 1/16 |
Facial abnormalities | ||
Abnormality of the eye | 100.0% | 19/19 |
Abnormality of the eyebrow | 100.0% | 19/19 |
Synophrys | 100.0% | 19/19 |
Coloboma | 5.3% | 1/19 |
Strabismus | 5.3% | 1/19 |
Abnormality of the mouth | 100.0% | 19/19 |
Everted lower lip vermilion | 100.0% | 19/19 |
Exaggerated cupid's bow | 100.0% | 19/19 |
Protruding tongue | 100.0% | 19/19 |
Visual and hearing impairments | ||
Abnormal hearing | 36.8% | 7/19 |
Hearing impairment | 36.8% | 7/19 |
Heart | ||
Abnormality of the heart | 31.6% | 6/19 |
Abnormal heart morphology | 26.3% | 5/19 |
Atrial flutter | 5.3% | 1/19 |
Left ventricular hypertrophy | 5.3% | 1/19 |
Gastrointestinal | ||
Gastrointestinal abnormalities | 42.1% | 8/19 |
Gastroesophageal reflux | 36.8% | 7/19 |
Anal atresia | 5.3% | 1/19 |
Urogenital | ||
Abnormality of the urogenital system | 21.1% | 4/19 |
Abnormal genital system morphology | 10.5% | 2/19 |
Hydronephrosis | 5.3% | 1/19 |
Vesicoureteral reflux | 5.3% | 1/19 |
Skeleton | ||
Skeletal abnormalities | 26.3% | 5/19 |
Abnormality of the skeletal system | 21.1% | 4/19 |
Joint hypermobility | 5.3% | 1/19 |
Skin / Hair / Nails | ||
Abnormality of the skin/hair/nails | 5.3% | 1/19 |
Abnormality of the teeth | 5.3% | 1/19 |
Endocrine / Immunological / Metabolic | ||
Abnormality of the endocrine system | 10.5% | 2/19 |
Precocious puberty | 10.5% | 2/19 |
Abnormality of the immune system | 10.5% | 2/19 |
Recurrent infections | 10.5% | 2/19 |