SPOP LoF
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 42.9% | 3/7 |
| Female | 57.1% | 4/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| General | ||
| Birth Length abnormalities | 0% | 0/5 |
| Birth Weight abnormalities | 0% | 0/7 |
| Birth Head circumference abnormalities | 50.0% | 3/6 |
| < P3 : Congenital microcephaly | 33.3% | 2/6 |
| > P98 : Macrocephaly at birth | 16.7% | 1/6 |
| Current Height abnormalities | 28.6% | 2/7 |
| < P3 : Short stature | 28.6% | 2/7 |
| Current Weight abnormalities | 42.9% | 3/7 |
| < P3 : Decreased body weight | 28.6% | 2/7 |
| > P98 : Increased body weight | 14.3% | 1/7 |
| Current Head circumference abnormalities | 71.4% | 5/7 |
| < P3 : Microcephaly | 28.6% | 2/7 |
| > P98 : Macrocephaly | 42.9% | 3/7 |
| Neurology | ||
| Neurological abnormalities | 85.7% | 6/7 |
| Neonatal hypotonia | 28.6% | 2/7 |
| Seizures | 28.6% | 2/7 |
| Sleep apnea | 28.6% | 2/7 |
| Central hypotonia | 14.3% | 1/7 |
| Chorea | 14.3% | 1/7 |
| Dystonia | 14.3% | 1/7 |
| Hemiparesis | 14.3% | 1/7 |
| Hypertonia | 14.3% | 1/7 |
| Migraine | 14.3% | 1/7 |
| Behavioral problems | 100.0% | 6/6 |
| Overfriendliness | 33.3% | 2/6 |
| Abnormal emotion/affect behavior | 16.7% | 1/6 |
| Agitation | 16.7% | 1/6 |
| Anxiety | 16.7% | 1/6 |
| Attention deficit hyperactivity disorder | 16.7% | 1/6 |
| Autism | 16.7% | 1/6 |
| Self-injurious behavior | 16.7% | 1/6 |
| Brain abnormality | 50.0% | 3/6 |
| Ventriculomegaly | 33.3% | 2/6 |
| Corpus callosum atrophy | 16.7% | 1/6 |
| Cortical gyral simplification | 16.7% | 1/6 |
| Widened subarachnoid space | 16.7% | 1/6 |
| Facial abnormalities | ||
| Abnormality of the ear | 71.4% | 5/7 |
| Low-set ears | 28.6% | 2/7 |
| Abnormality of the pinna | 14.3% | 1/7 |
| Low-set, posteriorly rotated ears | 14.3% | 1/7 |
| Protruding ear | 14.3% | 1/7 |
| Thickened helices | 14.3% | 1/7 |
| Abnormality of the eye | 100.0% | 7/7 |
| Hypertelorism | 57.1% | 4/7 |
| Deeply set eye | 28.6% | 2/7 |
| Highly arched eyebrow | 28.6% | 2/7 |
| Sparse eyebrow | 28.6% | 2/7 |
| Abnormal shape of the palpebral fissure | 14.3% | 1/7 |
| Downslanted palpebral fissures | 14.3% | 1/7 |
| Epicanthus | 14.3% | 1/7 |
| Long eyelashes | 14.3% | 1/7 |
| Long palpebral fissure | 14.3% | 1/7 |
| Synophrys | 14.3% | 1/7 |
| Telecanthus | 14.3% | 1/7 |
| Underdeveloped supraorbital ridges | 14.3% | 1/7 |
| Unilateral narrow palpebral fissure | 14.3% | 1/7 |
| Abnormality of the nose | 85.7% | 6/7 |
| Prominent nasal tip | 42.9% | 3/7 |
| Prominent nasal bridge | 42.9% | 3/7 |
| Depressed nasal bridge | 28.6% | 2/7 |
| Wide nasal bridge | 28.6% | 2/7 |
| Anteverted nares | 14.3% | 1/7 |
| Broad nasal tip | 14.3% | 1/7 |
| Prominent glabella | 14.3% | 1/7 |
| Prominent nose | 14.3% | 1/7 |
| Short nose | 14.3% | 1/7 |
| Underdeveloped nasal alae | 14.3% | 1/7 |
| Abnormality of the mouth | 85.7% | 6/7 |
| Pointed chin | 28.6% | 2/7 |
| Smooth philtrum | 28.6% | 2/7 |
| Abnormality of the gingiva | 14.3% | 1/7 |
| Bilateral cleft lip | 14.3% | 1/7 |
| High palate | 14.3% | 1/7 |
| Thin vermilion border | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal hearing | 28.6% | 2/7 |
| Bilateral sensorineural hearing impairment | 14.3% | 1/7 |
| Hearing impairment | 14.3% | 1/7 |
| Abnormal vision | 71.4% | 5/7 |
| Abnormality of refraction | 28.6% | 2/7 |
| Abnormality of the optic disc | 14.3% | 1/7 |
| Aplasia/Hypoplasia of the optic nerve | 14.3% | 1/7 |
| Strabismus | 14.3% | 1/7 |
| Heart | ||
| Abnormality of the heart | 57.1% | 4/7 |
| Atria septal defect | 28.6% | 2/7 |
| Ventricular septal defect | 28.6% | 2/7 |
| Abnormality of the left ventricular outflow tract | 14.3% | 1/7 |
| Bicuspid aortic valve | 14.3% | 1/7 |
| Coarctation of the descending aortic arch | 14.3% | 1/7 |
| Hypoplastic left heart | 14.3% | 1/7 |
| Persistent patent ductus venosus | 14.3% | 1/7 |
| Right ventricular outlet obstruction | 14.3% | 1/7 |
| Supravalvular aortic stenosis | 14.3% | 1/7 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 57.1% | 4/7 |
| Failure to thrive | 28.6% | 2/7 |
| Gastrostomy tube feeding in infancy | 28.6% | 2/7 |
| Gastroesophageal reflux | 28.6% | 2/7 |
| Chronic constipation | 14.3% | 1/7 |
| Urogenital | ||
| Abnormality of the urogenital system | 42.9% | 3/7 |
| Hypogonadism | 14.3% | 1/7 |
| Multicystic kidney dysplasia | 14.3% | 1/7 |
| Vesicoureteral reflux | 14.3% | 1/7 |
| Skeleton | ||
| Skeletal abnormalities | 42.9% | 3/7 |
| Clinodactyly of the 5th finger | 28.6% | 2/7 |
| Brachycephaly | 14.3% | 1/7 |
| Broad hallux | 14.3% | 1/7 |
| Pes cavus | 14.3% | 1/7 |
| Scoliosis | 14.3% | 1/7 |
| Short long bone | 14.3% | 1/7 |
| Short foot | 14.3% | 1/7 |
| Tapered finger | 14.3% | 1/7 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 14.3% | 1/7 |
| Eczema | 14.3% | 1/7 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 14.3% | 1/7 |
| Abnormal bleeding | 14.3% | 1/7 |
| Decreased serum testosterone level | 14.3% | 1/7 |
| Osteoporosis | 14.3% | 1/7 |
| Abnormality of the metabolic system | 42.9% | 3/7 |
| Hypothyroidism | 28.6% | 2/7 |
| Jaundice | 14.3% | 1/7 |
| Vitamin D deficiency | 14.3% | 1/7 |