TRIP12

Graph and Chart

Patient Overview : 23

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 69.6% 16/23
Female 30.4% 7/23
Neurology    
Neurological abnormalities 45.5% 10/22
Muscular hypotonia 18.2% 4/22
Seizures 13.6% 3/22
Facial hypotonia 4.5% 1/22
EEG abnormality 9.1% 2/22
Intention tremor 4.5% 1/22
Generalized tonic-clonic seizures 9.1% 2/22
Absence seizures 4.5% 1/22
Poor fine motor coordination 9.1% 2/22
Generalized hypotonia 4.5% 1/22
Developmental regression 9.1% 2/22
Neonatal hypotonia 4.5% 1/22
Behavioral problems 95.5% 21/22
Short attention span 13.6% 3/22
Autism 63.6% 14/22
Stereotypic behavior 18.2% 4/22
Restlessness 4.5% 1/22
Excessive salivation 4.5% 1/22
Behavioral abnormality 4.5% 1/22
Attention deficit hyperactivity disorder 4.5% 1/22
Hyperactivity 9.1% 2/22
Impulsivity 9.1% 2/22
Developmental regression 4.5% 1/22
Insomnia 9.1% 2/22
Sleep disturbance 4.5% 1/22
Autistic behavior 13.6% 3/22
Impaired social interactions 4.5% 1/22
Anxiety 4.5% 1/22
Repetitive compulsive behavior 4.5% 1/22
Abnormal aggressive, impulsive or violent behavior 4.5% 1/22
Aggressive behavior 9.1% 2/22
Brain abnormality 5.9% 1/17
Dilated third ventricle 5.9% 1/17
Dilation of lateral ventricles 5.9% 1/17
Facial abnormalities    
Abnormality of the ear 52.6% 10/19
Lop ear 5.3% 1/19
Large earlobe 31.6% 6/19
Microtia 15.8% 3/19
Posteriorly rotated ears 10.5% 2/19
Low-set ears 10.5% 2/19
Low-set, posteriorly rotated ears 5.3% 1/19
Abnormality of the eye 47.4% 9/19
Small palpebral fissure 26.3% 5/19
Epicanthus 31.6% 6/19
Hypertelorism 10.5% 2/19
Low hanging columella 5.3% 1/19
Hypotelorism 5.3% 1/19
Upper eyelid edema 5.3% 1/19
Abnormality of the nose 68.4% 13/19
Short nose 10.5% 2/19
Underdeveloped nasal alae 10.5% 2/19
Prominent nose 5.3% 1/19
Low hanging columella 15.8% 3/19
Depressed nasal bridge 5.3% 1/19
Broad nasal tip 10.5% 2/19
Long nose 5.3% 1/19
Anteverted nares 10.5% 2/19
Prominent nasal bridge 10.5% 2/19
Wide nasal bridge 5.3% 1/19
Abnormality of the mouth 73.7% 14/19
High palate 21.1% 4/19
Thin upper lip vermilion 15.8% 3/19
Exaggerated cupid's bow 21.1% 4/19
Micrognathia 5.3% 1/19
Retrognathia 5.3% 1/19
Wide mouth 26.3% 5/19
Thick vermilion border 15.8% 3/19
Downturned corners of mouth 26.3% 5/19
Widely spaced teeth 5.3% 1/19
Visual and hearing impairments    
Abnormal hearing 4.3% 1/23
Unilateral deafness 4.3% 1/23
Abnormal vision 19.0% 4/21
Astigmatism 4.8% 1/21
Strabismus 9.5% 2/21
Hypermetropia 4.8% 1/21
Visual impairment 4.8% 1/21
Esotropia 4.8% 1/21
Gastrointestinal    
Gastrointestinal abnormalities 13.6% 3/22
Intermittent diarrhea 4.5% 1/22
Abdominal distention 4.5% 1/22
Lactose intolerance 4.5% 1/22
Constipation 4.5% 1/22
Chronic constipation 4.5% 1/22
Urogenital    
Abnormality of the urogenital system 9.1% 2/22
Urinary incontinence 4.5% 1/22
Glandular hypospadias 4.5% 1/22
Skeleton    
Skeletal abnormalities 9.1% 2/22
Clinodactyly of the 5th finger 4.5% 1/22
Clinodactyly of the 4th toe 4.5% 1/22
Clinodactyly of the 5th toe 4.5% 1/22
Sandal gap 9.1% 2/22
Short toe 4.5% 1/22
Broad toe 4.5% 1/22
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 18.2% 4/22
Multiple palmar creases 4.5% 1/22
Frontal upsweep of hair 4.5% 1/22
2-3 toe syndactyly 4.5% 1/22
Widow's peak 4.5% 1/22
Supernumerary nipple 4.5% 1/22
Sacral dimple 4.5% 1/22
Endocrine / Immunological / Metabolic    
Abnormality of the immune system 13.6% 3/22
Recurrent infections 9.1% 2/22
Recurrent otitis media 4.5% 1/22
Susceptibility to chickenpox 4.5% 1/22
Chronic otitis media 4.5% 1/22