BRPF1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 47.4% | 9/19 |
| Female | 52.6% | 10/19 |
| Indifferent | 0% | 0/19 |
| Unknown | 0% | 0/19 |
| General | ||
| Birth Length abnormalities | 5.3% | 1/19 |
| < P3 : Birth length less than 3rd percentile | 5.3% | 1/19 |
| Birth Weight abnormalities | 0% | 0/19 |
| Birth Head circumference abnormalities | 10.5% | 2/19 |
| < P3 : Congenital microcephaly | 10.5% | 2/19 |
| Current Height abnormalities | 31.6% | 6/19 |
| < P3 : Short stature | 31.6% | 6/19 |
| Current Weight abnormalities | 5.3% | 1/19 |
| < P3 : Decreased body weight | 5.3% | 1/19 |
| Current Head circumference abnormalities | 36.8% | 7/19 |
| < P3 : Microcephaly | 36.8% | 7/19 |
| Neurology | ||
| Neurological abnormalities | 87.5% | 14/16 |
| Muscular hypotonia | 56.3% | 9/16 |
| Seizures | 37.5% | 6/16 |
| Neonatal hypotonia | 18.8% | 3/16 |
| Speech apraxia | 12.5% | 2/16 |
| Central sleep apnea | 6.3% | 1/16 |
| Generalized tonic-clonic seizures | 6.3% | 1/16 |
| Sleep disturbance | 6.3% | 1/16 |
| Behavioral problems | 54.5% | 6/11 |
| Autism | 27.3% | 3/11 |
| Attention deficit hyperactivity disorder | 18.2% | 2/11 |
| Behavioral abnormality | 9.1% | 1/11 |
| Hyperactivity | 9.1% | 1/11 |
| Shyness | 9.1% | 1/11 |
| Brain abnormality | 45.5% | 5/11 |
| Abnormality of the corpus callosum | 9.1% | 1/11 |
| Abnormality of the cerebral white matter | 9.1% | 1/11 |
| Agenesis of corpus callosum | 9.1% | 1/11 |
| Perivascular spaces | 9.1% | 1/11 |
| Subependymal cysts | 9.1% | 1/11 |
| Facial abnormalities | ||
| Abnormality of the ear | 31.6% | 6/19 |
| Hypoplastic superior helix | 5.3% | 1/19 |
| Low-set, posteriorly rotated ears | 5.3% | 1/19 |
| Low-set ears | 5.3% | 1/19 |
| Macrotia | 5.3% | 1/19 |
| Microtia | 5.3% | 1/19 |
| Small earlobe | 5.3% | 1/19 |
| Thickened helices | 5.3% | 1/19 |
| Abnormality of the eye | 94.7% | 18/19 |
| Ptosis | 68.4% | 13/19 |
| Blepharophimosis | 52.6% | 10/19 |
| Downslanted palpebral fissures | 52.6% | 10/19 |
| Hypertelorism | 21.1% | 4/19 |
| Prominent epicanthal folds | 5.3% | 1/19 |
| Short palpebral fissure | 5.3% | 1/19 |
| Small palpebral fissure | 5.3% | 1/19 |
| Upslanted palpebral fissure | 5.3% | 1/19 |
| Abnormality of the nose | 26.3% | 5/19 |
| Narrow naris | 15.8% | 3/19 |
| Depressed nasal bridge | 10.5% | 2/19 |
| Prominent nasal tip | 5.3% | 1/19 |
| Short nose | 5.3% | 1/19 |
| Abnormality of the mouth | 94.7% | 18/19 |
| Downturned corners of mouth | 52.6% | 10/19 |
| Narrow mouth | 15.8% | 3/19 |
| Short philtrum | 15.8% | 3/19 |
| Widely spaced teeth | 15.8% | 3/19 |
| Exaggerated cupid's bow | 10.5% | 2/19 |
| Bifid uvula | 5.3% | 1/19 |
| Dental malocclusion | 5.3% | 1/19 |
| High palate | 5.3% | 1/19 |
| Micrognathia | 5.3% | 1/19 |
| Narrow palate | 5.3% | 1/19 |
| Smooth philtrum | 5.3% | 1/19 |
| Thick upper lip vermilion | 5.3% | 1/19 |
| Thin upper lip vermilion | 5.3% | 1/19 |
| Upturned corners of mouth | 5.3% | 1/19 |
| Wide mouth | 5.3% | 1/19 |
| Visual and hearing impairments | ||
| Abnormal vision | 66.7% | 12/18 |
| Abnormality of refraction | 22.2% | 4/18 |
| Strabismus | 22.2% | 4/18 |
| Amblyopia | 16.7% | 3/18 |
| Hypermetropia | 11.1% | 2/18 |
| Aplasia/Hypoplasia of the optic nerve | 5.6% | 1/18 |
| Hyperopic astigmatism | 5.6% | 1/18 |
| Myopia | 5.6% | 1/18 |
| Nystagmus | 5.6% | 1/18 |
| Optic nerve hypoplasia | 5.6% | 1/18 |
| Heart | ||
| Abnormality of the heart | 10.5% | 2/19 |
| Atria septal defect | 5.3% | 1/19 |
| Hypertrophic cardiomyopathy | 5.3% | 1/19 |
| Pulmonic stenosis | 5.3% | 1/19 |
| Pulmonary | ||
| Abnormality of the lungs | 100.0% | 2/2 |
| Asthma | 100.0% | 2/2 |
| Tracheomalacia | 50.0% | 1/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 80.0% | 8/10 |
| Feeding difficulties | 40.0% | 4/10 |
| Constipation | 20.0% | 2/10 |
| Encopresis | 20.0% | 2/10 |
| Gastroesophageal reflux | 20.0% | 2/10 |
| Esophagitis | 10.0% | 1/10 |
| Esophageal ulceration | 10.0% | 1/10 |
| Skeleton | ||
| Skeletal abnormalities | 94.7% | 18/19 |
| Brachydactyly syndrome | 26.3% | 5/19 |
| Short metacarpal | 26.3% | 5/19 |
| Joint hypermobility | 21.1% | 4/19 |
| Cervical vertebral fusion (C2/C3) | 10.5% | 2/19 |
| Contracture of the proximal interphalangeal joint of the 5th finger | 10.5% | 2/19 |
| Abnormality of the thumb | 5.3% | 1/19 |
| Broad fingertip | 5.3% | 1/19 |
| Butterfly vertebrae | 5.3% | 1/19 |
| Camptodactyly of toe | 5.3% | 1/19 |
| Clinodactyly | 5.3% | 1/19 |
| Clinodactyly of the 5th finger | 5.3% | 1/19 |
| Clinodactyly of the 5th toe | 5.3% | 1/19 |
| Contracture of the proximal interphalangeal joint of the 2nd finger | 5.3% | 1/19 |
| Cubitus valgus | 5.3% | 1/19 |
| Finger clinodactyly | 5.3% | 1/19 |
| Limb joint contracture | 5.3% | 1/19 |
| Long toe | 5.3% | 1/19 |
| Metatarsus adductus | 5.3% | 1/19 |
| Short finger | 5.3% | 1/19 |
| Short foot | 5.3% | 1/19 |
| Talipes equinovarus | 5.3% | 1/19 |
| Tapered finger | 5.3% | 1/19 |
| 2-3 toe syndactyly | 5.3% | 1/19 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 30.0% | 3/10 |
| Abnormality of the palmar creases | 10.0% | 1/10 |
| Bilateral single transverse palmar creases | 10.0% | 1/10 |
| Eczema | 10.0% | 1/10 |
| Synophrys | 10.0% | 1/10 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Hypothyroidism | 100.0% | 1/1 |