DEAF1 autosomal dominant

Graph and Chart

Patient Overview : 37

General

Frequency of all clinical findings

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