KDM3B
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 57.1% | 8/14 |
| Female | 42.9% | 6/14 |
| Indifferent | 0% | 0/14 |
| Unknown | 0% | 0/14 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 36.4% | 4/11 |
| < P3 : Small for gestational age | 27.3% | 3/11 |
| > P98 : Large for gestational age | 9.1% | 1/11 |
| Birth Head circumference abnormalities | 0% | 0/2 |
| Current Height abnormalities | 63.6% | 7/11 |
| < P3 : Short stature | 63.6% | 7/11 |
| Current Weight abnormalities | 57.1% | 4/7 |
| > P98 : Increased body weight | 42.9% | 3/7 |
| < P3 : Decreased body weight | 14.3% | 1/7 |
| Current Head circumference abnormalities | 0% | 0/11 |
| Neurology | ||
| Neurological abnormalities | 69.2% | 9/13 |
| Feeding difficulties | 30.8% | 4/13 |
| Muscular hypotonia | 30.8% | 4/13 |
| Seizures | 23.1% | 3/13 |
| Dysphagia | 15.4% | 2/13 |
| Delayed social development | 7.7% | 1/13 |
| Hemiparesis | 7.7% | 1/13 |
| Limb hypertonia | 7.7% | 1/13 |
| Migraine | 7.7% | 1/13 |
| Nystagmus | 7.7% | 1/13 |
| Behavioral problems | 53.8% | 7/13 |
| Sleep disturbance | 30.8% | 4/13 |
| Attention deficit hyperactivity disorder | 23.1% | 3/13 |
| Autism | 23.1% | 3/13 |
| Abnormal aggressive, impulsive or violent behavior | 7.7% | 1/13 |
| Hyperactivity | 7.7% | 1/13 |
| Brain abnormality | 36.4% | 4/11 |
| Aplasia/Hypoplasia of the corpus callosum | 9.1% | 1/11 |
| Gliosis | 9.1% | 1/11 |
| Retrocerebellar cyst | 9.1% | 1/11 |
| Thick corpus callosum | 9.1% | 1/11 |
| Facial abnormalities | ||
| Abnormality of the ear | 57.1% | 8/14 |
| Long ear | 57.1% | 8/14 |
| Low-set, posteriorly rotated ears | 7.1% | 1/14 |
| Abnormality of the eye | 85.7% | 12/14 |
| Downslanted palpebral fissures | 42.9% | 6/14 |
| Ptosis | 42.9% | 6/14 |
| Upslanted palpebral fissure | 28.6% | 4/14 |
| Strabismus | 14.3% | 2/14 |
| Almond-shaped palpebral fissure | 7.1% | 1/14 |
| Hypertelorism | 7.1% | 1/14 |
| Hypotelorism | 7.1% | 1/14 |
| Large eyes | 7.1% | 1/14 |
| Low-set, posteriorly rotated ears | 7.1% | 1/14 |
| Small palpebral fissure | 7.1% | 1/14 |
| Telecanthus | 7.1% | 1/14 |
| Abnormality of the nose | 100.0% | 14/14 |
| Prominent nasal tip | 92.9% | 13/14 |
| Low hanging columella | 42.9% | 6/14 |
| Prominent nasal bridge | 14.3% | 2/14 |
| Broad nasal tip | 7.1% | 1/14 |
| Depressed nasal bridge | 7.1% | 1/14 |
| Short nasal bridge | 7.1% | 1/14 |
| Abnormality of the mouth | 100.0% | 14/14 |
| Thin upper lip vermilion | 85.7% | 12/14 |
| Wide mouth | 85.7% | 12/14 |
| Abnormality of the palate | 7.1% | 1/14 |
| High palate | 7.1% | 1/14 |
| Long philtrum | 7.1% | 1/14 |
| Narrow mouth | 7.1% | 1/14 |
| Visual and hearing impairments | ||
| Abnormal hearing | 15.4% | 2/13 |
| Hearing impairment | 15.4% | 2/13 |
| Enlarged vestibular aqueduct | 7.7% | 1/13 |
| Abnormal vision | 15.4% | 2/13 |
| Astigmatism | 7.7% | 1/13 |
| Myopia | 7.7% | 1/13 |
| Visual impairment | 7.7% | 1/13 |
| Heart | ||
| Abnormality of the heart | 21.4% | 3/14 |
| Ventricular septal defect | 14.3% | 2/14 |
| Atria septal defect | 7.1% | 1/14 |
| Interrupted inferior vena cava with azygous continuation | 7.1% | 1/14 |
| Patent ductus arteriosus | 7.1% | 1/14 |
| Pulmonary hypertension | 7.1% | 1/14 |
| Pulmonary | ||
| Abnormality of the lungs | 100.0% | 1/1 |
| Asthma | 100.0% | 1/1 |
| Recurrent thromboembolism | 100.0% | 1/1 |
| Recurrent respiratory infections | 100.0% | 1/1 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 30.8% | 4/13 |
| Episodic vomiting | 15.4% | 2/13 |
| Duodenal atresia | 7.7% | 1/13 |
| Feeding difficulties | 7.7% | 1/13 |
| Urogenital | ||
| Abnormality of the urogenital system | 7.7% | 1/13 |
| Hypospadias | 7.7% | 1/13 |
| Skeleton | ||
| Skeletal abnormalities | 57.1% | 8/14 |
| Joint hypermobility | 21.4% | 3/14 |
| Sandal gap | 21.4% | 3/14 |
| Clinodactyly of the 5th finger | 14.3% | 2/14 |
| Pes planus | 14.3% | 2/14 |
| Brachydactyly syndrome | 7.1% | 1/14 |
| Broad distal phalanx of the thumb | 7.1% | 1/14 |
| Clinodactyly of the 5th toe | 7.1% | 1/14 |
| Hip dysplasia | 7.1% | 1/14 |
| Long fingers | 7.1% | 1/14 |
| Scoliosis | 7.1% | 1/14 |
| Short neck | 7.1% | 1/14 |
| Short finger | 7.1% | 1/14 |
| Small hand | 7.1% | 1/14 |
| Tapered finger | 7.1% | 1/14 |
| Ulnar deviation of thumb | 7.1% | 1/14 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 23.1% | 3/13 |
| Abnormality of the teeth | 7.7% | 1/13 |
| Hypodontia | 7.7% | 1/13 |
| Hypopigmentation of hair | 7.7% | 1/13 |
| Sandal gap | 7.7% | 1/13 |
| Small finger | 7.7% | 1/13 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 21.4% | 3/14 |
| Congenital hypothyroidism | 7.1% | 1/14 |
| Growth hormone deficiency | 7.1% | 1/14 |
| Hypothyroidism | 7.1% | 1/14 |
| Vitamin D deficiency | 7.1% | 1/14 |
| Abnormality of the immune system | 7.7% | 1/13 |
| Recurrent urinary tract infections | 7.7% | 1/13 |
| Neoplasia | ||
| Neoplasia | 15.4% | 2/13 |
| Acute myeloid leukemia | 7.7% | 1/13 |
| Hodgkin lymphoma | 7.7% | 1/13 |