TANC2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 24/36 |
| Female | 25.0% | 9/36 |
| Indifferent | 0% | 0/36 |
| Unknown | 8.3% | 3/36 |
| General | ||
| Birth Length abnormalities | 0% | 0/36 |
| Birth Weight abnormalities | 0% | 0/36 |
| Birth Head circumference abnormalities | 0% | 0/36 |
| Current Height abnormalities | 11.1% | 4/36 |
| > P98 : Tall stature | 2.8% | 1/36 |
| < P3 : Short stature | 8.3% | 3/36 |
| Current Weight abnormalities | 8.3% | 3/36 |
| < P3 : Decreased body weight | 8.3% | 3/36 |
| Current Head circumference abnormalities | 5.6% | 2/36 |
| < P3 : Microcephaly | 5.6% | 2/36 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 27/27 |
| Motor delay | 51.9% | 14/27 |
| Delayed speech and language development | 48.1% | 13/27 |
| EEG abnormality | 37.0% | 10/27 |
| Seizures | 33.3% | 9/27 |
| Intellectual disability | 18.5% | 5/27 |
| Absent speech | 14.8% | 4/27 |
| Intellectual disability, severe | 14.8% | 4/27 |
| Intellectual disability, mild | 14.8% | 4/27 |
| Intellectual disability, borderline | 11.1% | 3/27 |
| Intellectual disability, moderate | 11.1% | 3/27 |
| Muscular hypotonia | 11.1% | 3/27 |
| Unsteady gait | 11.1% | 3/27 |
| Absence seizures | 7.4% | 2/27 |
| Broad-based gait | 7.4% | 2/27 |
| Developmental regression | 7.4% | 2/27 |
| Febrile seizures | 7.4% | 2/27 |
| Gait disturbance | 7.4% | 2/27 |
| Gait ataxia | 7.4% | 2/27 |
| Generalized seizures | 7.4% | 2/27 |
| Global developmental delay | 7.4% | 2/27 |
| Intellectual disability, profound | 7.4% | 2/27 |
| Neurodevelopmental delay | 7.4% | 2/27 |
| Spastic ataxia | 7.4% | 2/27 |
| Tip-toe gait | 7.4% | 2/27 |
| Ataxia | 3.7% | 1/27 |
| Babinski sign | 3.7% | 1/27 |
| Delayed gross motor development | 3.7% | 1/27 |
| Encephalopathy | 3.7% | 1/27 |
| Epileptic encephalopathy | 3.7% | 1/27 |
| Focal dystonia | 3.7% | 1/27 |
| Gait imbalance | 3.7% | 1/27 |
| Inability to walk | 3.7% | 1/27 |
| Infantile spasms | 3.7% | 1/27 |
| Insomnia | 3.7% | 1/27 |
| Intellectual disability, progressive | 3.7% | 1/27 |
| Language impairment | 3.7% | 1/27 |
| Macrocephaly | 3.7% | 1/27 |
| Motor tics | 3.7% | 1/27 |
| Pain | 3.7% | 1/27 |
| Restless legs | 3.7% | 1/27 |
| Sleep disturbance | 3.7% | 1/27 |
| Sleep apnea | 3.7% | 1/27 |
| Spastic gait | 3.7% | 1/27 |
| Speech articulation difficulties | 3.7% | 1/27 |
| Status epilepticus | 3.7% | 1/27 |
| Behavioral problems | 94.1% | 32/34 |
| Stereotypic behavior | 44.1% | 15/34 |
| Autistic behavior | 38.2% | 13/34 |
| Autism | 26.5% | 9/34 |
| Anxiety | 17.6% | 6/34 |
| Aggressive behavior | 14.7% | 5/34 |
| Sleep disturbance | 14.7% | 5/34 |
| Attention deficit hyperactivity disorder | 8.8% | 3/34 |
| Behavioral abnormality | 8.8% | 3/34 |
| Obsessive-compulsive behavior | 8.8% | 3/34 |
| Bruxism | 5.9% | 2/34 |
| Drooling | 5.9% | 2/34 |
| Hyperactivity | 5.9% | 2/34 |
| Self-injurious behavior | 5.9% | 2/34 |
| Emotional lability | 2.9% | 1/34 |
| Hallucinations | 2.9% | 1/34 |
| Hyperkinesis | 2.9% | 1/34 |
| Impaired social interactions | 2.9% | 1/34 |
| Impulsivity | 2.9% | 1/34 |
| Schizophrenia | 2.9% | 1/34 |
| Self-mutilation | 2.9% | 1/34 |
| Specific learning disability | 2.9% | 1/34 |
| Brain abnormality | 60.0% | 9/15 |
| Microcephaly | 26.7% | 4/15 |
| Abnormality of brain morphology | 20.0% | 3/15 |
| Macrocephaly | 13.3% | 2/15 |
| Abnormality of the pineal gland | 6.7% | 1/15 |
| Abnormality of the cerebral white matter | 6.7% | 1/15 |
| Abnormality of the anterior commissure | 6.7% | 1/15 |
| Abnormal CNS myelination | 6.7% | 1/15 |
| Brain atrophy | 6.7% | 1/15 |
| Dilation of lateral ventricles | 6.7% | 1/15 |
| Hypoplastic anterior commissure | 6.7% | 1/15 |
| Small pituitary gland | 6.7% | 1/15 |
| Facial abnormalities | ||
| Abnormality of the ear | 33.3% | 5/15 |
| Posteriorly rotated ears | 20.0% | 3/15 |
| Low-set ears | 6.7% | 1/15 |
| Macrotia | 6.7% | 1/15 |
| Thickened helices | 6.7% | 1/15 |
| Uplifted earlobe | 6.7% | 1/15 |
| Abnormality of the eye | 47.4% | 9/19 |
| Thick eyebrow | 21.1% | 4/19 |
| Upslanted palpebral fissure | 21.1% | 4/19 |
| Deeply set eye | 15.8% | 3/19 |
| Epicanthus | 15.8% | 3/19 |
| Hypotelorism | 10.5% | 2/19 |
| Short palpebral fissure | 10.5% | 2/19 |
| Strabismus | 10.5% | 2/19 |
| Synophrys | 10.5% | 2/19 |
| Telecanthus | 5.3% | 1/19 |
| Abnormality of the nose | 22.2% | 4/18 |
| Abnormality of the nasal bridge | 5.6% | 1/18 |
| Bulbous nose | 5.6% | 1/18 |
| Convex nasal ridge | 5.6% | 1/18 |
| Hypoplastic nasal bridge | 5.6% | 1/18 |
| Long nose | 5.6% | 1/18 |
| Narrow nose | 5.6% | 1/18 |
| Prominent nose | 5.6% | 1/18 |
| Wide nasal bridge | 5.6% | 1/18 |
| Abnormality of the mouth | 47.1% | 8/17 |
| Widely spaced teeth | 35.3% | 6/17 |
| Wide mouth | 17.6% | 3/17 |
| Everted lower lip vermilion | 11.8% | 2/17 |
| Protruding tongue | 11.8% | 2/17 |
| Bifid tongue | 5.9% | 1/17 |
| Macroglossia | 5.9% | 1/17 |
| Mandibular prognathia | 5.9% | 1/17 |
| Micrognathia | 5.9% | 1/17 |
| Open mouth | 5.9% | 1/17 |
| Overbite | 5.9% | 1/17 |
| Pointed chin | 5.9% | 1/17 |
| Retrognathia | 5.9% | 1/17 |
| Short philtrum | 5.9% | 1/17 |
| Thick vermilion border | 5.9% | 1/17 |
| Thick lower lip vermilion | 5.9% | 1/17 |
| Thin vermilion border | 5.9% | 1/17 |
| Visual and hearing impairments | ||
| Abnormal vision | 62.5% | 5/8 |
| Abnormality of vision | 12.5% | 1/8 |
| Abnormality of the retinal vasculature | 12.5% | 1/8 |
| Astigmatism | 12.5% | 1/8 |
| Cortical visual impairment | 12.5% | 1/8 |
| Exotropia | 12.5% | 1/8 |
| Optic atrophy | 12.5% | 1/8 |
| Strabismus | 12.5% | 1/8 |
| Pulmonary | ||
| Abnormality of the lungs | 40.0% | 2/5 |
| Apnea | 20.0% | 1/5 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 63.6% | 14/22 |
| Chronic constipation | 22.7% | 5/22 |
| Constipation | 22.7% | 5/22 |
| Gastroesophageal reflux | 13.6% | 3/22 |
| Abdominal distention | 4.5% | 1/22 |
| Abdominal pain | 4.5% | 1/22 |
| Chronic diarrhea | 4.5% | 1/22 |
| Crohn's disease | 4.5% | 1/22 |
| Feeding difficulties in infancy | 4.5% | 1/22 |
| Vomiting | 4.5% | 1/22 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 1/2 |
| Hypospadias | 50.0% | 1/2 |
| Skeleton | ||
| Skeletal abnormalities | 83.3% | 10/12 |
| Joint hypermobility | 25.0% | 3/12 |
| Pectus excavatum | 25.0% | 3/12 |
| Scoliosis | 25.0% | 3/12 |
| Spasticity | 16.7% | 2/12 |
| Brisk reflexes | 8.3% | 1/12 |
| Bruising susceptibility | 8.3% | 1/12 |
| Coxa valga | 8.3% | 1/12 |
| Kyphosis | 8.3% | 1/12 |
| Pectus carinatum | 8.3% | 1/12 |
| Talipes equinovarus | 8.3% | 1/12 |
| Valgus foot deformity | 8.3% | 1/12 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 33.3% | 1/3 |
| Alopecia of scalp | 33.3% | 1/3 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 50.0% | 1/2 |
| Fatigue | 50.0% | 1/2 |
| Hypothyroidism | 50.0% | 1/2 |