DDB1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 33.3% | 2/6 |
| Female | 66.7% | 4/6 |
| Indifferent | 0% | 0/6 |
| Unknown | 0% | 0/6 |
| General | ||
| Birth Length abnormalities | 0% | 0/6 |
| Birth Weight abnormalities | 16.7% | 1/6 |
| < P3 : Small for gestational age | 16.7% | 1/6 |
| Birth Head circumference abnormalities | 0% | 0/6 |
| Current Height abnormalities | 50.0% | 3/6 |
| < P3 : Short stature | 50.0% | 3/6 |
| Current Weight abnormalities | 33.3% | 2/6 |
| > P98 : Increased body weight | 33.3% | 2/6 |
| Current Head circumference abnormalities | 0% | 0/6 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 6/6 |
| Hypotonia | 66.7% | 4/6 |
| Abnormal head movements | 16.7% | 1/6 |
| Generalized hypotonia | 16.7% | 1/6 |
| Moderate global developmental delay | 16.7% | 1/6 |
| Psychomotor deterioration | 16.7% | 1/6 |
| Behavioral problems | 100.0% | 1/1 |
| Attention deficit hyperactivity disorder | 100.0% | 1/1 |
| Brain abnormality | 80.0% | 4/5 |
| Abnormal corpus callosum morphology | 20.0% | 1/5 |
| Dysplastic corpus callosum | 20.0% | 1/5 |
| Focal T2 hyperintense brainstem lesion | 20.0% | 1/5 |
| Lateral ventricle dilatation | 20.0% | 1/5 |
| Mild fetal ventriculomegaly | 20.0% | 1/5 |
| Ventriculomegaly | 20.0% | 1/5 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 6/6 |
| Large fleshy ears | 50.0% | 3/6 |
| Low-set ears | 33.3% | 2/6 |
| Macrotia | 33.3% | 2/6 |
| Abnormality of the eye | 83.3% | 5/6 |
| Deeply set eye | 33.3% | 2/6 |
| Long palpebral fissure | 33.3% | 2/6 |
| obsolete Prominent epicanthal folds | 33.3% | 2/6 |
| Abnormal size of the palpebral fissures | 16.7% | 1/6 |
| Epicanthus | 16.7% | 1/6 |
| Epicanthus inversus | 16.7% | 1/6 |
| Hypotelorism | 16.7% | 1/6 |
| Telecanthus | 16.7% | 1/6 |
| Thick eyebrow | 16.7% | 1/6 |
| Upslanted palpebral fissure | 16.7% | 1/6 |
| Abnormality of the nose | 60.0% | 3/5 |
| Short nose | 60.0% | 3/5 |
| Underdeveloped nasal alae | 40.0% | 2/5 |
| Anteverted nares | 20.0% | 1/5 |
| Narrow nose | 20.0% | 1/5 |
| Prominent nasal bridge | 20.0% | 1/5 |
| Abnormality of the mouth | 60.0% | 3/5 |
| Retrognathia | 40.0% | 2/5 |
| Ankyloglossia | 20.0% | 1/5 |
| Dental malocclusion | 20.0% | 1/5 |
| Tented upper lip vermilion | 20.0% | 1/5 |
| Thick upper lip vermilion | 20.0% | 1/5 |
| Thin vermilion border | 20.0% | 1/5 |
| Thin upper lip vermilion | 20.0% | 1/5 |
| Visual and hearing impairments | ||
| Abnormal hearing | 40.0% | 2/5 |
| Conductive hearing impairment | 20.0% | 1/5 |
| Hearing impairment | 20.0% | 1/5 |
| Abnormal vision | 80.0% | 4/5 |
| Strabismus | 60.0% | 3/5 |
| Nystagmus | 40.0% | 2/5 |
| Esotropia | 20.0% | 1/5 |
| Hypermetropia | 20.0% | 1/5 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 1/2 |
| Gastroesophageal reflux | 50.0% | 1/2 |
| Urogenital | ||
| Abnormality of the urogenital system | 60.0% | 3/5 |
| Horseshoe kidney | 40.0% | 2/5 |
| Hydroureter | 20.0% | 1/5 |
| Hydronephrosis | 20.0% | 1/5 |
| Vesicoureteral reflux | 20.0% | 1/5 |
| Skeleton | ||
| Skeletal abnormalities | 83.3% | 5/6 |
| obsolete Joint laxity | 33.3% | 2/6 |
| Short toe | 33.3% | 2/6 |
| 2-3 toe syndactyly | 33.3% | 2/6 |
| Abnormal 4th metacarpal morphology | 16.7% | 1/6 |
| Brachydactyly | 16.7% | 1/6 |
| Clinodactyly of the 5th finger | 16.7% | 1/6 |
| Hip dysplasia | 16.7% | 1/6 |
| Joint hypermobility | 16.7% | 1/6 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 80.0% | 4/5 |
| Medial flaring of the eyebrow | 40.0% | 2/5 |
| Cutis laxa | 20.0% | 1/5 |
| Horizontal eyebrow | 20.0% | 1/5 |
| Laterally extended eyebrow | 20.0% | 1/5 |
| Localized hirsutism | 20.0% | 1/5 |
| Long eyelashes | 20.0% | 1/5 |
| Papule | 20.0% | 1/5 |
| Prominent fingertip pads | 20.0% | 1/5 |
| Soft skin | 20.0% | 1/5 |
| Synophrys | 20.0% | 1/5 |
| Thick eyebrow | 20.0% | 1/5 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Hypothyroidism | 100.0% | 1/1 |
| Abnormality of the immune system | 100.0% | 1/1 |
| Recurrent otitis media | 100.0% | 1/1 |