EBF3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 45.7% | 16/35 |
| Female | 54.3% | 19/35 |
| Indifferent | 0% | 0/35 |
| Unknown | 0% | 0/35 |
| General | ||
| Birth Length abnormalities | 8.6% | 3/35 |
| < P3 : Birth length less than 3rd percentile | 8.6% | 3/35 |
| Birth Weight abnormalities | 14.3% | 5/35 |
| < P3 : Small for gestational age | 11.4% | 4/35 |
| > P98 : Large for gestational age | 2.9% | 1/35 |
| Birth Head circumference abnormalities | 8.6% | 3/35 |
| > P98 : Macrocephaly at birth | 2.9% | 1/35 |
| < P3 : Congenital microcephaly | 5.7% | 2/35 |
| Current Height abnormalities | 20.0% | 7/35 |
| < P3 : Short stature | 20.0% | 7/35 |
| Current Weight abnormalities | 14.3% | 5/35 |
| < P3 : Decreased body weight | 11.4% | 4/35 |
| > P98 : Increased body weight | 2.9% | 1/35 |
| Current Head circumference abnormalities | 5.7% | 2/35 |
| > P98 : Macrocephaly | 2.9% | 1/35 |
| < P3 : Microcephaly | 2.9% | 1/35 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 35/35 |
| Motor delay | 91.4% | 32/35 |
| Generalized hypotonia | 80.0% | 28/35 |
| Delayed speech and language development | 77.1% | 27/35 |
| Ataxia | 54.3% | 19/35 |
| Gait ataxia | 40.0% | 14/35 |
| Dysarthria | 20.0% | 7/35 |
| EEG abnormality | 17.1% | 6/35 |
| Incoordination | 17.1% | 6/35 |
| Febrile seizures | 11.4% | 4/35 |
| Hypomimic face | 11.4% | 4/35 |
| Seizures | 8.6% | 3/35 |
| Myopathy | 5.7% | 2/35 |
| Speech apraxia | 5.7% | 2/35 |
| Difficulty walking | 2.9% | 1/35 |
| Hypertonia | 2.9% | 1/35 |
| Intellectual disability, moderate | 2.9% | 1/35 |
| Language impairment | 2.9% | 1/35 |
| Neurodevelopmental delay | 2.9% | 1/35 |
| Behavioral problems | 100.0% | 14/14 |
| Attention deficit hyperactivity disorder | 42.9% | 6/14 |
| Autistic behavior | 42.9% | 6/14 |
| Stereotypic behavior | 28.6% | 4/14 |
| Autism | 21.4% | 3/14 |
| Emotional lability | 14.3% | 2/14 |
| Low frustration tolerance | 7.1% | 1/14 |
| Motor tics | 7.1% | 1/14 |
| Brain abnormality | 35.7% | 10/28 |
| Abnormality of the cerebellum | 28.6% | 8/28 |
| Cerebellar vermis hypoplasia | 21.4% | 6/28 |
| Delayed myelination | 7.1% | 2/28 |
| Abnormality of the cerebral ventricles | 3.6% | 1/28 |
| Facial abnormalities | ||
| Abnormality of the ear | 73.3% | 11/15 |
| Low-set ears | 6.7% | 1/15 |
| Abnormality of the eye | 100.0% | 23/23 |
| Strabismus | 91.3% | 21/23 |
| Nystagmus | 8.7% | 2/23 |
| Almond-shaped palpebral fissure | 4.3% | 1/23 |
| Broad eyebrow | 4.3% | 1/23 |
| Synophrys | 4.3% | 1/23 |
| Abnormality of the nose | 87.5% | 7/8 |
| Abnormality of the nasal bridge | 62.5% | 5/8 |
| Anteverted nares | 25.0% | 2/8 |
| Abnormality of the mouth | 100.0% | 13/13 |
| Abnormality of the lip | 92.3% | 12/13 |
| Delayed eruption of permanent teeth | 7.7% | 1/13 |
| High palate | 7.7% | 1/13 |
| Long uvula | 7.7% | 1/13 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 1/1 |
| Strabismus | 100.0% | 1/1 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 91.7% | 11/12 |
| Feeding difficulties | 66.7% | 8/12 |
| Constipation | 33.3% | 4/12 |
| Gastroesophageal reflux | 33.3% | 4/12 |
| Urogenital | ||
| Abnormality of the urogenital system | 94.7% | 18/19 |
| Neurogenic bladder | 47.4% | 9/19 |
| Recurrent urinary tract infections | 42.1% | 8/19 |
| Vesicoureteral reflux | 42.1% | 8/19 |
| Abnormal external genitalia | 31.6% | 6/19 |
| Abnormality of the bladder | 26.3% | 5/19 |
| Abnormality of the kidney | 26.3% | 5/19 |
| Cryptorchidism | 15.8% | 3/19 |
| Abnormal female reproductive system physiology | 10.5% | 2/19 |
| Skeleton | ||
| Skeletal abnormalities | 96.2% | 25/26 |
| Short stature | 53.8% | 14/26 |
| Abnormality of the forehead | 30.8% | 8/26 |
| Prominent forehead | 26.9% | 7/26 |
| Broad chin | 23.1% | 6/26 |
| Long face | 23.1% | 6/26 |
| Short chin | 23.1% | 6/26 |
| Triangular face | 23.1% | 6/26 |
| Abnormality of the nasal bridge | 15.4% | 4/26 |
| Pectus excavatum | 15.4% | 4/26 |
| Clinodactyly | 7.7% | 2/26 |
| Pointed chin | 7.7% | 2/26 |
| Short digit | 7.7% | 2/26 |