DEAF1 autosomal dominant
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 54.8% | 23/42 |
| Female | 45.2% | 19/42 |
| Indifferent | 0% | 0/42 |
| Unknown | 0% | 0/42 |
| General | ||
| Birth Length abnormalities | 0% | 0/41 |
| Birth Weight abnormalities | 0% | 0/41 |
| Birth Head circumference abnormalities | 2.5% | 1/40 |
| < P3 : Congenital microcephaly | 2.5% | 1/40 |
| Current Height abnormalities | 7.1% | 3/42 |
| > P98 : Tall stature | 7.1% | 3/42 |
| Current Weight abnormalities | 4.9% | 2/41 |
| > P98 : Increased body weight | 4.9% | 2/41 |
| Current Head circumference abnormalities | 9.8% | 4/41 |
| > P98 : Macrocephaly | 7.3% | 3/41 |
| < P3 : Microcephaly | 2.4% | 1/41 |
| Neurology | ||
| Neurological abnormalities | 90.2% | 37/41 |
| Sleep disturbance | 46.3% | 19/41 |
| Seizures | 43.9% | 18/41 |
| Poor eye contact | 39.0% | 16/41 |
| Muscular hypotonia | 34.1% | 14/41 |
| Gait ataxia | 14.6% | 6/41 |
| Absence seizures | 9.8% | 4/41 |
| Gait disturbance | 7.3% | 3/41 |
| Insomnia | 7.3% | 3/41 |
| Central hypotonia | 4.9% | 2/41 |
| Generalized tonic-clonic seizures | 4.9% | 2/41 |
| Absent speech | 2.4% | 1/41 |
| Bruxism | 2.4% | 1/41 |
| Dystonia | 2.4% | 1/41 |
| Easy fatigability | 2.4% | 1/41 |
| EEG abnormality | 2.4% | 1/41 |
| EEG with generalized epileptiform discharges | 2.4% | 1/41 |
| EEG with persistent abnormal rhythmic activity | 2.4% | 1/41 |
| Epileptic encephalopathy | 2.4% | 1/41 |
| Episodic generalized hypotonia | 2.4% | 1/41 |
| Focal seizures | 2.4% | 1/41 |
| Generalized hypotonia | 2.4% | 1/41 |
| Generalized seizures | 2.4% | 1/41 |
| Global developmental delay | 2.4% | 1/41 |
| Headache | 2.4% | 1/41 |
| Intellectual disability, progressive | 2.4% | 1/41 |
| Muscle weakness | 2.4% | 1/41 |
| Poor fine motor coordination | 2.4% | 1/41 |
| Ptosis | 2.4% | 1/41 |
| Severe muscular hypotonia | 2.4% | 1/41 |
| Status epilepticus | 2.4% | 1/41 |
| Tip-toe gait | 2.4% | 1/41 |
| Tremor | 2.4% | 1/41 |
| Behavioral problems | 92.9% | 39/42 |
| Autism | 61.9% | 26/42 |
| Mood swings | 47.6% | 20/42 |
| Impaired pain sensation | 38.1% | 16/42 |
| Aggressive behavior | 31.0% | 13/42 |
| Autistic behavior | 9.5% | 4/42 |
| Stereotypic behavior | 9.5% | 4/42 |
| Pain insensitivity | 7.1% | 3/42 |
| Agitation | 4.8% | 2/42 |
| Attention deficit hyperactivity disorder | 4.8% | 2/42 |
| Hyperactivity | 4.8% | 2/42 |
| Irritability | 4.8% | 2/42 |
| Punding | 4.8% | 2/42 |
| Self-injurious behavior | 4.8% | 2/42 |
| Anxiety | 2.4% | 1/42 |
| Delayed speech and language development | 2.4% | 1/42 |
| Inappropriate laughter | 2.4% | 1/42 |
| Low frustration tolerance | 2.4% | 1/42 |
| Motor delay | 2.4% | 1/42 |
| Oppositional defiant disorder | 2.4% | 1/42 |
| Polyphagia | 2.4% | 1/42 |
| Psychosis | 2.4% | 1/42 |
| Brain abnormality | 34.4% | 11/32 |
| EEG abnormality | 18.8% | 6/32 |
| Abnormal brainstem MRI signal intensity | 3.1% | 1/32 |
| Aplasia/Hypoplasia of the cerebral white matter | 3.1% | 1/32 |
| Aplasia/Hypoplasia of the corpus callosum | 3.1% | 1/32 |
| Arachnoid cyst | 3.1% | 1/32 |
| Cerebral ischemia | 3.1% | 1/32 |
| Cortical dysplasia | 3.1% | 1/32 |
| Macrocephaly | 3.1% | 1/32 |
| Facial abnormalities | ||
| Abnormality of the ear | 3.0% | 1/33 |
| Bifid tragus | 3.0% | 1/33 |
| Abnormality of the eye | 18.2% | 6/33 |
| Horizontal eyebrow | 9.1% | 3/33 |
| Deeply set eye | 3.0% | 1/33 |
| Epicanthus | 3.0% | 1/33 |
| Hypertelorism | 3.0% | 1/33 |
| Upslanted palpebral fissure | 3.0% | 1/33 |
| Abnormality of the nose | 17.6% | 6/34 |
| Prominent nasal tip | 8.8% | 3/34 |
| Broad nasal tip | 2.9% | 1/34 |
| Depressed nasal bridge | 2.9% | 1/34 |
| Abnormality of the mouth | 29.4% | 10/34 |
| Exaggerated cupid's bow | 11.8% | 4/34 |
| Thick lower lip vermilion | 11.8% | 4/34 |
| Open mouth | 5.9% | 2/34 |
| Abnormality of mouth shape | 2.9% | 1/34 |
| Absent cupid's bow | 2.9% | 1/34 |
| Ankyloglossia | 2.9% | 1/34 |
| High palate | 2.9% | 1/34 |
| Prominence of the premaxilla | 2.9% | 1/34 |
| Widely spaced teeth | 2.9% | 1/34 |
| Visual and hearing impairments | ||
| Abnormal hearing | 6.3% | 2/32 |
| Hearing impairment | 6.3% | 2/32 |
| Abnormal vision | 23.3% | 7/30 |
| Strabismus | 10.0% | 3/30 |
| Astigmatism | 3.3% | 1/30 |
| Exotropia | 3.3% | 1/30 |
| Hyperopic astigmatism | 3.3% | 1/30 |
| Myopia | 3.3% | 1/30 |
| Heart | ||
| Abnormality of the heart | 2.9% | 1/35 |
| Pulmonary hypertension | 2.9% | 1/35 |
| Secundum atrial septal defect | 2.9% | 1/35 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 61.1% | 22/36 |
| Feeding difficulties | 25.0% | 9/36 |
| Constipation | 22.2% | 8/36 |
| Gastroesophageal reflux | 22.2% | 8/36 |
| Cow milk allergy | 8.3% | 3/36 |
| Diarrhea | 8.3% | 3/36 |
| Chronic constipation | 5.6% | 2/36 |
| Intermittent diarrhea | 5.6% | 2/36 |
| Chronic diarrhea | 2.8% | 1/36 |
| Failure to thrive | 2.8% | 1/36 |
| Feeding difficulties in infancy | 2.8% | 1/36 |
| Gastrointestinal inflammation | 2.8% | 1/36 |
| Urogenital | ||
| Abnormality of the urogenital system | 5.6% | 2/36 |
| Bilateral cryptorchidism | 2.8% | 1/36 |
| Prominent scrotal raphe | 2.8% | 1/36 |
| Skeleton | ||
| Skeletal abnormalities | 62.2% | 23/37 |
| Joint hypermobility | 24.3% | 9/37 |
| Prominent fingertip pads | 21.6% | 8/37 |
| Abnormality of limbs | 16.2% | 6/37 |
| 2-3 toe syndactyly | 8.1% | 3/37 |
| Kyphoscoliosis | 5.4% | 2/37 |
| Sacral dimple | 5.4% | 2/37 |
| Large hands | 2.7% | 1/37 |
| Pectus excavatum | 2.7% | 1/37 |
| Pes planus | 2.7% | 1/37 |
| Scoliosis | 2.7% | 1/37 |
| Short fourth metatarsal | 2.7% | 1/37 |
| Short finger | 2.7% | 1/37 |
| Splayed toes | 2.7% | 1/37 |
| 2-3 toe cutaneous syndactyly | 2.7% | 1/37 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 32.4% | 12/37 |
| Fair hair | 13.5% | 5/37 |
| Fine hair | 10.8% | 4/37 |
| Abnormality of the fingernails | 2.7% | 1/37 |
| Aplasia/Hypoplasia of the nails | 2.7% | 1/37 |
| Dry skin | 2.7% | 1/37 |
| Eczema | 2.7% | 1/37 |
| Eczematoid dermatitis | 2.7% | 1/37 |
| Hemangioma | 2.7% | 1/37 |
| Nail dystrophy | 2.7% | 1/37 |
| Thick hair | 2.7% | 1/37 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 3.8% | 1/26 |
| Dysharmonic delayed bone age | 3.8% | 1/26 |
| Abnormality of the immune system | 42.9% | 15/35 |
| Recurrent infections | 28.6% | 10/35 |
| Recurrent infections in infancy and early childhood | 8.6% | 3/35 |
| Conjunctivitis | 2.9% | 1/35 |
| Esophagitis | 2.9% | 1/35 |
| Recurrent otitis media | 2.9% | 1/35 |