DEAF1 autosomal recessive
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 75.0% | 12/16 |
| Female | 25.0% | 4/16 |
| Indifferent | 0% | 0/16 |
| Unknown | 0% | 0/16 |
| General | ||
| Birth Length abnormalities | 0% | 0/16 |
| Birth Weight abnormalities | 6.3% | 1/16 |
| < P3 : Small for gestational age | 6.3% | 1/16 |
| Birth Head circumference abnormalities | 12.5% | 2/16 |
| < P3 : Primary microcephaly | 12.5% | 2/16 |
| Current Height abnormalities | 25.0% | 4/16 |
| < P3 : Short stature | 25.0% | 4/16 |
| Current Weight abnormalities | 0% | 0/16 |
| Current Head circumference abnormalities | 56.3% | 9/16 |
| < P3 : Microcephaly | 50.0% | 8/16 |
| > P98 : Macrocephaly | 6.3% | 1/16 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 16/16 |
| Sleep disturbance | 56.3% | 9/16 |
| Seizure | 50.0% | 8/16 |
| Generalized hypotonia | 43.8% | 7/16 |
| Hypotonia | 37.5% | 6/16 |
| Reduced eye contact | 31.3% | 5/16 |
| Abnormal muscle tone | 25.0% | 4/16 |
| Dyskinesia | 18.8% | 3/16 |
| Involuntary movements | 18.8% | 3/16 |
| Hyperactive deep tendon reflexes | 12.5% | 2/16 |
| Bilateral tonic-clonic seizure | 6.3% | 1/16 |
| Dystonia | 6.3% | 1/16 |
| Gait imbalance | 6.3% | 1/16 |
| Gait ataxia | 6.3% | 1/16 |
| Gait apraxia | 6.3% | 1/16 |
| Insomnia | 6.3% | 1/16 |
| obsolete Central hypotonia | 6.3% | 1/16 |
| obsolete Poor motor coordination | 6.3% | 1/16 |
| Poor head control | 6.3% | 1/16 |
| Reduced tendon reflexes | 6.3% | 1/16 |
| Truncal ataxia | 6.3% | 1/16 |
| Behavioral problems | 75.0% | 9/12 |
| obsolete Mood swings | 50.0% | 6/12 |
| Aggressive behavior | 41.7% | 5/12 |
| Self-injurious behavior | 41.7% | 5/12 |
| Autism | 33.3% | 4/12 |
| Attention deficit hyperactivity disorder | 8.3% | 1/12 |
| Impaired pain sensation | 8.3% | 1/12 |
| Inappropriate laughter | 8.3% | 1/12 |
| Recurrent hand flapping | 8.3% | 1/12 |
| Repetitive compulsive behavior | 8.3% | 1/12 |
| Brain abnormality | 81.3% | 13/16 |
| Abnormal cerebral white matter morphology | 18.8% | 3/16 |
| Ventriculomegaly | 18.8% | 3/16 |
| Abnormal cortical gyration | 12.5% | 2/16 |
| Hypoplasia of the corpus callosum | 12.5% | 2/16 |
| Microcephaly | 12.5% | 2/16 |
| Abnormal muscle tone | 6.3% | 1/16 |
| Abnormal periventricular white matter morphology | 6.3% | 1/16 |
| Basal ganglia gliosis | 6.3% | 1/16 |
| Cerebral white matter atrophy | 6.3% | 1/16 |
| Corpus callosum atrophy | 6.3% | 1/16 |
| Delayed myelination | 6.3% | 1/16 |
| EEG with generalized epileptiform discharges | 6.3% | 1/16 |
| Hydrocephalus | 6.3% | 1/16 |
| Partial agenesis of the corpus callosum | 6.3% | 1/16 |
| Reduced tendon reflexes | 6.3% | 1/16 |
| Facial abnormalities | ||
| Abnormality of the ear | 18.2% | 2/11 |
| Large earlobe | 9.1% | 1/11 |
| Low-set ears | 9.1% | 1/11 |
| Preauricular pit | 9.1% | 1/11 |
| Abnormality of the eye | 18.2% | 2/11 |
| Downslanted palpebral fissures | 9.1% | 1/11 |
| Epicanthus | 9.1% | 1/11 |
| Hypertelorism | 9.1% | 1/11 |
| Proptosis | 9.1% | 1/11 |
| Telecanthus | 9.1% | 1/11 |
| Abnormality of the nose | 9.1% | 1/11 |
| Anteverted nares | 9.1% | 1/11 |
| Abnormality of the mouth | 18.2% | 2/11 |
| High palate | 9.1% | 1/11 |
| High, narrow palate | 9.1% | 1/11 |
| Tented upper lip vermilion | 9.1% | 1/11 |
| Visual and hearing impairments | ||
| Abnormal vision | 33.3% | 3/9 |
| Abnormality of vision | 11.1% | 1/9 |
| Hypermetropia | 11.1% | 1/9 |
| Strabismus | 11.1% | 1/9 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 90.9% | 10/11 |
| Constipation | 54.5% | 6/11 |
| Feeding difficulties | 54.5% | 6/11 |
| Fatigable weakness of swallowing muscles | 18.2% | 2/11 |
| Gastroesophageal reflux | 18.2% | 2/11 |
| Impaired mastication | 18.2% | 2/11 |
| Dysphagia | 9.1% | 1/11 |
| Esophageal atresia | 9.1% | 1/11 |
| Esophagitis | 9.1% | 1/11 |
| Urogenital | ||
| Abnormality of the urogenital system | 33.3% | 3/9 |
| Cryptorchidism | 33.3% | 3/9 |
| Micropenis | 22.2% | 2/9 |
| Skeleton | ||
| Skeletal abnormalities | 63.6% | 7/11 |
| Joint hypermobility | 18.2% | 2/11 |
| Tapered finger | 18.2% | 2/11 |
| Adducted thumb | 9.1% | 1/11 |
| Hand clenching | 9.1% | 1/11 |
| Hyperextensibility of the finger joints | 9.1% | 1/11 |
| Long fingers | 9.1% | 1/11 |
| Osteoporosis | 9.1% | 1/11 |
| Overlapping toe | 9.1% | 1/11 |
| Prominent fingertip pads | 9.1% | 1/11 |
| Scoliosis | 9.1% | 1/11 |
| Tapered toe | 9.1% | 1/11 |
| 2-3 toe syndactyly | 9.1% | 1/11 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 16.7% | 1/6 |
| Eczematoid dermatitis | 16.7% | 1/6 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 57.1% | 4/7 |
| Otitis media | 14.3% | 1/7 |
| Recurrent infections | 14.3% | 1/7 |
| Recurrent respiratory infections | 14.3% | 1/7 |
| Recurrent infection of the gastrointestinal tract | 14.3% | 1/7 |