DEAF1 autosomal dominant
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 54.1% | 20/37 |
| Female | 45.9% | 17/37 |
| Neurology | ||
| Neurological abnormalities | 94.4% | 34/36 |
| EEG with generalized epileptiform discharges | 2.8% | 1/36 |
| Muscular hypotonia | 36.1% | 13/36 |
| Poor eye contact | 44.4% | 16/36 |
| Gait disturbance | 8.3% | 3/36 |
| Seizures | 50.0% | 18/36 |
| Central hypotonia | 5.6% | 2/36 |
| Sleep disturbance | 50.0% | 18/36 |
| Tremor | 2.8% | 1/36 |
| Gait ataxia | 16.7% | 6/36 |
| Global developmental delay | 2.8% | 1/36 |
| Absence seizures | 8.3% | 3/36 |
| Generalized tonic-clonic seizures | 5.6% | 2/36 |
| Generalized hypotonia | 2.8% | 1/36 |
| EEG abnormality | 2.8% | 1/36 |
| Generalized seizures | 2.8% | 1/36 |
| Status epilepticus | 2.8% | 1/36 |
| Bruxism | 2.8% | 1/36 |
| Dystonia | 2.8% | 1/36 |
| Severe muscular hypotonia | 2.8% | 1/36 |
| Insomnia | 8.3% | 3/36 |
| Focal seizures | 2.8% | 1/36 |
| Tip-toe gait | 2.8% | 1/36 |
| Behavioral problems | 94.6% | 35/37 |
| Attention deficit hyperactivity disorder | 5.4% | 2/37 |
| Mood swings | 54.1% | 20/37 |
| Autism | 70.3% | 26/37 |
| Punding | 5.4% | 2/37 |
| Pain insensitivity | 8.1% | 3/37 |
| Self-injurious behavior | 5.4% | 2/37 |
| Autistic behavior | 8.1% | 3/37 |
| Psychosis | 2.7% | 1/37 |
| Oppositional defiant disorder | 2.7% | 1/37 |
| Agitation | 5.4% | 2/37 |
| Stereotypic behavior | 5.4% | 2/37 |
| Aggressive behavior | 32.4% | 12/37 |
| Impaired pain sensation | 43.2% | 16/37 |
| Polyphagia | 2.7% | 1/37 |
| Hyperactivity | 2.7% | 1/37 |
| Irritability | 5.4% | 2/37 |
| Anxiety | 2.7% | 1/37 |
| Brain abnormality | 37.0% | 10/27 |
| Aplasia/Hypoplasia of the corpus callosum | 3.7% | 1/27 |
| Aplasia/Hypoplasia of the cerebral white matter | 3.7% | 1/27 |
| Macrocephaly | 3.7% | 1/27 |
| Abnormal brainstem MRI signal intensity | 3.7% | 1/27 |
| Cortical dysplasia | 3.7% | 1/27 |
| EEG abnormality | 22.2% | 6/27 |
| Facial abnormalities | ||
| Abnormality of the eye | 21.4% | 6/28 |
| Epicanthus | 3.6% | 1/28 |
| Horizontal eyebrow | 10.7% | 3/28 |
| Hypertelorism | 3.6% | 1/28 |
| Deeply set eye | 3.6% | 1/28 |
| Upslanted palpebral fissure | 3.6% | 1/28 |
| Abnormality of the nose | 20.7% | 6/29 |
| Broad nasal tip | 3.4% | 1/29 |
| Prominent nasal tip | 10.3% | 3/29 |
| Abnormality of the nose | 3.4% | 1/29 |
| Depressed nasal bridge | 3.4% | 1/29 |
| Abnormality of the mouth | 31.0% | 9/29 |
| Absent cupid's bow | 3.4% | 1/29 |
| Exaggerated cupid's bow | 13.8% | 4/29 |
| Thick lower lip vermilion | 13.8% | 4/29 |
| High palate | 3.4% | 1/29 |
| Open mouth | 3.4% | 1/29 |
| Abnormality of mouth shape | 3.4% | 1/29 |
| Ankyloglossia | 3.4% | 1/29 |
| Prominence of the premaxilla | 3.4% | 1/29 |
| Visual and hearing impairments | ||
| Abnormal hearing | 7.4% | 2/27 |
| Hearing impairment | 7.4% | 2/27 |
| Abnormal vision | 16.0% | 4/25 |
| Strabismus | 12.0% | 3/25 |
| Astigmatism | 4.0% | 1/25 |
| Heart | ||
| Abnormality of the heart | 3.1% | 1/32 |
| Secundum atrial septal defect | 3.1% | 1/32 |
| Pulmonary hypertension | 3.1% | 1/32 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 64.5% | 20/31 |
| Chronic constipation | 3.2% | 1/31 |
| Gastroesophageal reflux | 22.6% | 7/31 |
| Failure to thrive | 3.2% | 1/31 |
| Intermittent diarrhea | 6.5% | 2/31 |
| Gastrointestinal inflammation | 3.2% | 1/31 |
| Feeding difficulties in infancy | 3.2% | 1/31 |
| Cow milk allergy | 9.7% | 3/31 |
| Constipation | 22.6% | 7/31 |
| Feeding difficulties | 29.0% | 9/31 |
| Diarrhea | 9.7% | 3/31 |
| Chronic diarrhea | 3.2% | 1/31 |
| Urogenital | ||
| Abnormality of the urogenital system | 6.5% | 2/31 |
| Bilateral cryptorchidism | 3.2% | 1/31 |
| Prominent scrotal raphe | 3.2% | 1/31 |
| Skeleton | ||
| Skeletal abnormalities | 68.8% | 22/32 |
| 2-3 toe cutaneous syndactyly | 3.1% | 1/32 |
| Joint hypermobility | 25.0% | 8/32 |
| Sacral dimple | 6.3% | 2/32 |
| Pes planus | 3.1% | 1/32 |
| Prominent fingertip pads | 25.0% | 8/32 |
| Large hands | 3.1% | 1/32 |
| Abnormality of limbs | 18.8% | 6/32 |
| Scoliosis | 3.1% | 1/32 |
| 2-3 toe syndactyly | 9.4% | 3/32 |
| Kyphoscoliosis | 6.3% | 2/32 |
| Pectus excavatum | 3.1% | 1/32 |
| Short finger | 3.1% | 1/32 |
| Short fourth metatarsal | 3.1% | 1/32 |
| Splayed toes | 3.1% | 1/32 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 31.3% | 10/32 |
| Fair hair | 15.6% | 5/32 |
| Fine hair | 12.5% | 4/32 |
| Dry skin | 3.1% | 1/32 |
| Hemangioma | 3.1% | 1/32 |
| Eczema | 3.1% | 1/32 |
| Thick hair | 3.1% | 1/32 |
| Aplasia/Hypoplasia of the nails | 3.1% | 1/32 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 50.0% | 15/30 |
| Recurrent infections in infancy and early childhood | 10.0% | 3/30 |
| Recurrent otitis media | 3.3% | 1/30 |
| Recurrent infections | 33.3% | 10/30 |
| Esophagitis | 3.3% | 1/30 |
| Conjunctivitis | 3.3% | 1/30 |