DEAF1 autosomal recessive
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 73.3% | 11/15 |
| Female | 26.7% | 4/15 |
| Indifferent | 0% | 0/15 |
| Unknown | 0% | 0/15 |
| General | ||
| Birth Length abnormalities | 0% | 0/15 |
| Birth Weight abnormalities | 6.7% | 1/15 |
| < P3 : Small for gestational age | 6.7% | 1/15 |
| Birth Head circumference abnormalities | 13.3% | 2/15 |
| < P3 : Congenital microcephaly | 13.3% | 2/15 |
| Current Height abnormalities | 26.7% | 4/15 |
| < P3 : Short stature | 26.7% | 4/15 |
| Current Weight abnormalities | 0% | 0/15 |
| Current Head circumference abnormalities | 60.0% | 9/15 |
| < P3 : Microcephaly | 53.3% | 8/15 |
| > P98 : Macrocephaly | 6.7% | 1/15 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 15/15 |
| Sleep disturbance | 60.0% | 9/15 |
| Seizures | 53.3% | 8/15 |
| Generalized hypotonia | 46.7% | 7/15 |
| Muscular hypotonia | 40.0% | 6/15 |
| Poor eye contact | 33.3% | 5/15 |
| Abnormal muscle tone | 26.7% | 4/15 |
| Dyskinesia | 20.0% | 3/15 |
| Involuntary movements | 20.0% | 3/15 |
| Hyperactive deep tendon reflexes | 13.3% | 2/15 |
| Central hypotonia | 6.7% | 1/15 |
| Dystonia | 6.7% | 1/15 |
| Gait ataxia | 6.7% | 1/15 |
| Gait apraxia | 6.7% | 1/15 |
| Gait imbalance | 6.7% | 1/15 |
| Generalized tonic-clonic seizures | 6.7% | 1/15 |
| Insomnia | 6.7% | 1/15 |
| Poor motor coordination | 6.7% | 1/15 |
| Poor head control | 6.7% | 1/15 |
| Reduced tendon reflexes | 6.7% | 1/15 |
| Truncal ataxia | 6.7% | 1/15 |
| Behavioral problems | 72.7% | 8/11 |
| Mood swings | 54.5% | 6/11 |
| Aggressive behavior | 45.5% | 5/11 |
| Self-injurious behavior | 45.5% | 5/11 |
| Autism | 36.4% | 4/11 |
| Attention deficit hyperactivity disorder | 9.1% | 1/11 |
| Impaired pain sensation | 9.1% | 1/11 |
| Inappropriate laughter | 9.1% | 1/11 |
| Recurrent hand flapping | 9.1% | 1/11 |
| Repetitive compulsive behavior | 9.1% | 1/11 |
| Brain abnormality | 86.7% | 13/15 |
| Abnormality of the cerebral white matter | 20.0% | 3/15 |
| Ventriculomegaly | 20.0% | 3/15 |
| Abnormal cortical gyration | 13.3% | 2/15 |
| Hypoplasia of the corpus callosum | 13.3% | 2/15 |
| Microcephaly | 13.3% | 2/15 |
| Abnormal muscle tone | 6.7% | 1/15 |
| Abnormality of the periventricular white matter | 6.7% | 1/15 |
| Basal ganglia gliosis | 6.7% | 1/15 |
| Cerebral white matter atrophy | 6.7% | 1/15 |
| Corpus callosum atrophy | 6.7% | 1/15 |
| Delayed myelination | 6.7% | 1/15 |
| EEG with generalized epileptiform discharges | 6.7% | 1/15 |
| Hydrocephalus | 6.7% | 1/15 |
| Partial agenesis of the corpus callosum | 6.7% | 1/15 |
| Reduced tendon reflexes | 6.7% | 1/15 |
| Facial abnormalities | ||
| Abnormality of the ear | 20.0% | 2/10 |
| Large earlobe | 10.0% | 1/10 |
| Low-set ears | 10.0% | 1/10 |
| Preauricular pit | 10.0% | 1/10 |
| Abnormality of the eye | 20.0% | 2/10 |
| Downslanted palpebral fissures | 10.0% | 1/10 |
| Epicanthus | 10.0% | 1/10 |
| Hypertelorism | 10.0% | 1/10 |
| Proptosis | 10.0% | 1/10 |
| Telecanthus | 10.0% | 1/10 |
| Abnormality of the nose | 10.0% | 1/10 |
| Anteverted nares | 10.0% | 1/10 |
| Abnormality of the mouth | 20.0% | 2/10 |
| High, narrow palate | 10.0% | 1/10 |
| High palate | 10.0% | 1/10 |
| Tented upper lip vermilion | 10.0% | 1/10 |
| Visual and hearing impairments | ||
| Abnormal vision | 37.5% | 3/8 |
| Abnormality of vision | 12.5% | 1/8 |
| Hypermetropia | 12.5% | 1/8 |
| Strabismus | 12.5% | 1/8 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 10/10 |
| Constipation | 60.0% | 6/10 |
| Feeding difficulties | 60.0% | 6/10 |
| Chewing difficulties | 20.0% | 2/10 |
| Fatigable weakness of swallowing muscles | 20.0% | 2/10 |
| Gastroesophageal reflux | 20.0% | 2/10 |
| Dysphagia | 10.0% | 1/10 |
| Esophageal atresia | 10.0% | 1/10 |
| Esophagitis | 10.0% | 1/10 |
| Urogenital | ||
| Abnormality of the urogenital system | 37.5% | 3/8 |
| Cryptorchidism | 37.5% | 3/8 |
| Micropenis | 25.0% | 2/8 |
| Skeleton | ||
| Skeletal abnormalities | 70.0% | 7/10 |
| Joint hypermobility | 20.0% | 2/10 |
| Tapered finger | 20.0% | 2/10 |
| Adducted thumb | 10.0% | 1/10 |
| Hand clenching | 10.0% | 1/10 |
| Hyperextensibility of the finger joints | 10.0% | 1/10 |
| Long fingers | 10.0% | 1/10 |
| Osteoporosis | 10.0% | 1/10 |
| Overlapping toe | 10.0% | 1/10 |
| Prominent fingertip pads | 10.0% | 1/10 |
| Scoliosis | 10.0% | 1/10 |
| Tapered toe | 10.0% | 1/10 |
| 2-3 toe syndactyly | 10.0% | 1/10 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 20.0% | 1/5 |
| Eczema | 20.0% | 1/5 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 66.7% | 4/6 |
| Otitis media | 16.7% | 1/6 |
| Recurrent respiratory infections | 16.7% | 1/6 |
| Recurrent infection of the gastrointestinal tract | 16.7% | 1/6 |
| Recurrent infections | 16.7% | 1/6 |