TBC1D24
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 54.9% | 39/71 |
| Female | 45.1% | 32/71 |
| Indifferent | 0% | 0/71 |
| Unknown | 0% | 0/71 |
| General | ||
| Birth Length abnormalities | 0% | 0/71 |
| Birth Weight abnormalities | 2.8% | 2/71 |
| > P98 : Large for gestational age | 1.4% | 1/71 |
| < P3 : Small for gestational age | 1.4% | 1/71 |
| Birth Head circumference abnormalities | 0% | 0/71 |
| Current Height abnormalities | 2.8% | 2/71 |
| < P3 : Short stature | 2.8% | 2/71 |
| Current Weight abnormalities | 1.4% | 1/71 |
| < P3 : Decreased body weight | 1.4% | 1/71 |
| Current Head circumference abnormalities | 15.5% | 11/71 |
| < P3 : Microcephaly | 15.5% | 11/71 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 71/71 |
| Generalized tonic-clonic seizures | 32.4% | 23/71 |
| Focal myoclonic seizures | 26.8% | 19/71 |
| Myoclonus | 23.9% | 17/71 |
| Bilateral convulsive seizures | 18.3% | 13/71 |
| Muscular hypotonia | 18.3% | 13/71 |
| Epileptic encephalopathy | 14.1% | 10/71 |
| Focal motor seizures | 11.3% | 8/71 |
| Focal seizures | 11.3% | 8/71 |
| Spasticity | 11.3% | 8/71 |
| Ataxia | 9.9% | 7/71 |
| Tremor | 9.9% | 7/71 |
| Febrile seizures | 8.5% | 6/71 |
| Focal clonic seizures | 8.5% | 6/71 |
| Nystagmus | 8.5% | 6/71 |
| Dysarthria | 7.0% | 5/71 |
| Dystonia | 7.0% | 5/71 |
| Generalized myoclonic seizures | 7.0% | 5/71 |
| Infantile axial hypotonia | 7.0% | 5/71 |
| Generalized clonic seizures | 5.6% | 4/71 |
| Postural tremor | 5.6% | 4/71 |
| Sleep disturbance | 5.6% | 4/71 |
| Abnormal pyramidal signs | 4.2% | 3/71 |
| Absence seizures | 4.2% | 3/71 |
| Facial tics | 4.2% | 3/71 |
| Status epilepticus | 4.2% | 3/71 |
| Dyskinesia | 2.8% | 2/71 |
| Dysmetria | 2.8% | 2/71 |
| Epilepsia partialis continua | 2.8% | 2/71 |
| Focal autonomic seizures | 2.8% | 2/71 |
| Involuntary movements | 2.8% | 2/71 |
| Jerky ocular pursuit movements | 2.8% | 2/71 |
| Limb dystonia | 2.8% | 2/71 |
| Opisthotonus | 2.8% | 2/71 |
| Poor fine motor coordination | 2.8% | 2/71 |
| Rigidity | 2.8% | 2/71 |
| Rotary nystagmus | 2.8% | 2/71 |
| Apnea | 1.4% | 1/71 |
| Bradykinesia | 1.4% | 1/71 |
| Brisk reflexes | 1.4% | 1/71 |
| Choreoathetosis | 1.4% | 1/71 |
| Dysdiadochokinesis | 1.4% | 1/71 |
| Dysphagia | 1.4% | 1/71 |
| Eyelid myoclonias | 1.4% | 1/71 |
| Gait ataxia | 1.4% | 1/71 |
| Generalized hypotonia | 1.4% | 1/71 |
| Hemiplegia/hemiparesis | 1.4% | 1/71 |
| Hemiplegia | 1.4% | 1/71 |
| Horizontal nystagmus | 1.4% | 1/71 |
| Hypertonia | 1.4% | 1/71 |
| Infantile spasms | 1.4% | 1/71 |
| Limb tremor | 1.4% | 1/71 |
| Mixed demyelinating and axonal polyneuropathy | 1.4% | 1/71 |
| Motor axonal neuropathy | 1.4% | 1/71 |
| Muscular hypotonia of the trunk | 1.4% | 1/71 |
| Myoclonic atonic seizures | 1.4% | 1/71 |
| Parkinsonism | 1.4% | 1/71 |
| Paroxysmal dystonia | 1.4% | 1/71 |
| Poor coordination | 1.4% | 1/71 |
| Reduced tendon reflexes | 1.4% | 1/71 |
| Severe muscular hypotonia | 1.4% | 1/71 |
| Spastic hemiparesis | 1.4% | 1/71 |
| Supranuclear gaze palsy | 1.4% | 1/71 |
| Tetraplegia | 1.4% | 1/71 |
| Tongue fasciculations | 1.4% | 1/71 |
| Behavioral problems | 85.7% | 12/14 |
| Drooling | 21.4% | 3/14 |
| Behavioral abnormality | 14.3% | 2/14 |
| Hyperactivity | 14.3% | 2/14 |
| Auditory hallucinations | 7.1% | 1/14 |
| Autism | 7.1% | 1/14 |
| Depression | 7.1% | 1/14 |
| Disinhibition | 7.1% | 1/14 |
| Irritability | 7.1% | 1/14 |
| Paranoia | 7.1% | 1/14 |
| Poor eye contact | 7.1% | 1/14 |
| Psychosis | 7.1% | 1/14 |
| Self-injurious behavior | 7.1% | 1/14 |
| Short attention span | 7.1% | 1/14 |
| Visual hallucinations | 7.1% | 1/14 |
| Brain abnormality | 63.0% | 34/54 |
| Cerebellar atrophy | 18.5% | 10/54 |
| Delayed myelination | 9.3% | 5/54 |
| Ventriculomegaly | 9.3% | 5/54 |
| Abnormality of the corpus callosum | 7.4% | 4/54 |
| Global brain atrophy | 7.4% | 4/54 |
| Widened subarachnoid space | 7.4% | 4/54 |
| Limbic malformations | 5.6% | 3/54 |
| Brain atrophy | 3.7% | 2/54 |
| Enlarged sylvian cistern | 3.7% | 2/54 |
| Epileptiform EEG discharges | 3.7% | 2/54 |
| Cerebellar gliosis | 1.9% | 1/54 |
| Cerebral atrophy | 1.9% | 1/54 |
| Cerebral cortical atrophy | 1.9% | 1/54 |
| Cerebellar vermis hypoplasia | 1.9% | 1/54 |
| Diffuse cerebral atrophy | 1.9% | 1/54 |
| EEG with photoparoxysmal response | 1.9% | 1/54 |
| EEG with focal epileptiform discharges | 1.9% | 1/54 |
| EEG with generalized epileptiform discharges | 1.9% | 1/54 |
| Enlarged cisterna magna | 1.9% | 1/54 |
| Frontotemporal cerebral atrophy | 1.9% | 1/54 |
| Gliosis | 1.9% | 1/54 |
| Hypsarrhythmia | 1.9% | 1/54 |
| Nonprogressive cerebellar ataxia | 1.9% | 1/54 |
| Perivascular spaces | 1.9% | 1/54 |
| Temporal cortical atrophy | 1.9% | 1/54 |
| Facial abnormalities | ||
| Abnormality of the ear | 11.1% | 5/45 |
| Protruding ear | 4.4% | 2/45 |
| Low-set ears | 2.2% | 1/45 |
| Macrotia | 2.2% | 1/45 |
| Preauricular skin tag | 2.2% | 1/45 |
| Stenosis of the external auditory canal | 2.2% | 1/45 |
| Abnormality of the eye | 22.2% | 10/45 |
| Downslanted palpebral fissures | 4.4% | 2/45 |
| Prominent eyelashes | 4.4% | 2/45 |
| Small palpebral fissure | 4.4% | 2/45 |
| Thick eyebrow | 4.4% | 2/45 |
| Epicanthus | 2.2% | 1/45 |
| Hypertelorism | 2.2% | 1/45 |
| Ptosis | 2.2% | 1/45 |
| Telecanthus | 2.2% | 1/45 |
| Upslanted palpebral fissure | 2.2% | 1/45 |
| Abnormality of the nose | 31.1% | 14/45 |
| Wide nasal bridge | 11.1% | 5/45 |
| Broad nasal tip | 6.7% | 3/45 |
| Depressed nasal bridge | 6.7% | 3/45 |
| Bulbous nose | 4.4% | 2/45 |
| Prominent nose | 4.4% | 2/45 |
| Thick nasal alae | 4.4% | 2/45 |
| Abnormality of the nasal bridge | 2.2% | 1/45 |
| Depressed glabella | 2.2% | 1/45 |
| Prominent nasal bridge | 2.2% | 1/45 |
| Abnormality of the mouth | 29.5% | 13/44 |
| Widely spaced teeth | 9.1% | 4/44 |
| High palate | 6.8% | 3/44 |
| Thin upper lip vermilion | 6.8% | 3/44 |
| Broad alveolar ridges | 4.5% | 2/44 |
| Everted lower lip vermilion | 4.5% | 2/44 |
| Long philtrum | 4.5% | 2/44 |
| Thick lower lip vermilion | 4.5% | 2/44 |
| Bifid uvula | 2.3% | 1/44 |
| Broad philtrum | 2.3% | 1/44 |
| Cleft primary palate | 2.3% | 1/44 |
| Deep philtrum | 2.3% | 1/44 |
| Delayed eruption of permanent teeth | 2.3% | 1/44 |
| Furrowed tongue | 2.3% | 1/44 |
| Gingival overgrowth | 2.3% | 1/44 |
| Narrow palate | 2.3% | 1/44 |
| Short lingual frenulum | 2.3% | 1/44 |
| Thick vermilion border | 2.3% | 1/44 |
| Visual and hearing impairments | ||
| Abnormal hearing | 55.6% | 20/36 |
| Hearing impairment | 36.1% | 13/36 |
| Bilateral sensorineural hearing impairment | 5.6% | 2/36 |
| Hyperacusis | 2.8% | 1/36 |
| Sensorineural hearing impairment | 2.8% | 1/36 |
| Severe sensorineural hearing impairment | 2.8% | 1/36 |
| Severe hearing impairment | 2.8% | 1/36 |
| Tinnitus | 2.8% | 1/36 |
| Abnormal vision | 23.3% | 7/30 |
| Myopia | 10.0% | 3/30 |
| Cortical visual impairment | 6.7% | 2/30 |
| Esotropia | 3.3% | 1/30 |
| Ophthalmoplegia | 3.3% | 1/30 |
| Optic atrophy | 3.3% | 1/30 |
| Reduced visual acuity | 3.3% | 1/30 |
| Visual impairment | 3.3% | 1/30 |
| Heart | ||
| Abnormality of the heart | 44.4% | 4/9 |
| Cardiac arrest | 22.2% | 2/9 |
| Double outlet right ventricle | 11.1% | 1/9 |
| Patent foramen ovale | 11.1% | 1/9 |
| Pulmonary | ||
| Abnormality of the lungs | 66.7% | 6/9 |
| Respiratory failure | 22.2% | 2/9 |
| Abnormal pattern of respiration | 11.1% | 1/9 |
| Recurrent pneumonia | 11.1% | 1/9 |
| Respiratory infections in early life | 11.1% | 1/9 |
| Tachypnea | 11.1% | 1/9 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 61.3% | 19/31 |
| Feeding difficulties | 45.2% | 14/31 |
| Gastrostomy tube feeding in infancy | 6.5% | 2/31 |
| Feeding difficulties in infancy | 3.2% | 1/31 |
| Vomiting | 3.2% | 1/31 |
| Urogenital | ||
| Abnormality of the urogenital system | 22.2% | 2/9 |
| Cryptorchidism | 11.1% | 1/9 |
| Hydronephrosis | 11.1% | 1/9 |
| Nephrocalcinosis | 11.1% | 1/9 |
| Skeleton | ||
| Skeletal abnormalities | 43.9% | 18/41 |
| Brachydactyly syndrome | 24.4% | 10/41 |
| Abnormality of finger | 7.3% | 3/41 |
| Triphalangeal thumb | 7.3% | 3/41 |
| Abnormality of toe | 4.9% | 2/41 |
| Aplasia of the distal phalanx of the 5th finger | 4.9% | 2/41 |
| Long hallux | 4.9% | 2/41 |
| Scoliosis | 4.9% | 2/41 |
| Absent epiphysis of the distal phalanx of the 3rd toe | 2.4% | 1/41 |
| Absent epiphysis of the distal phalanx of the 2nd toe | 2.4% | 1/41 |
| Absent epiphysis of the distal phalanx of the 4th toe | 2.4% | 1/41 |
| Absent epiphysis of the distal phalanx of the 5th toe | 2.4% | 1/41 |
| Absent epiphysis of the distal phalanx of the 5th finger | 2.4% | 1/41 |
| Aplasia/Hypoplasia of the distal phalanx of the 4th finger | 2.4% | 1/41 |
| Aplasia/Hypoplasia of the distal phalanx of the 3rd finger | 2.4% | 1/41 |
| Aplasia of the distal phalanx of the 3rd finger | 2.4% | 1/41 |
| Aplasia/Hypoplasia of the distal phalanx of the 2nd finger | 2.4% | 1/41 |
| Aplasia/Hypoplasia of the distal phalanges of the hand | 2.4% | 1/41 |
| Aplasia of the distal phalanx of the 4th finger | 2.4% | 1/41 |
| Clinodactyly of the 4th toe | 2.4% | 1/41 |
| Clinodactyly of the 5th toe | 2.4% | 1/41 |
| Opisthotonus | 2.4% | 1/41 |
| Short distal phalanx of the thumb | 2.4% | 1/41 |
| Short distal phalanx of finger | 2.4% | 1/41 |
| Small hand | 2.4% | 1/41 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 46.5% | 20/43 |
| Abnormality of the fingernails | 23.3% | 10/43 |
| Abnormality of the toenails | 20.9% | 9/43 |
| Absent toenail | 7.0% | 3/43 |
| Cyanosis | 7.0% | 3/43 |
| Hypoplastic toenails | 4.7% | 2/43 |
| Hypoplastic fingernail | 4.7% | 2/43 |
| Prominent fingertip pads | 4.7% | 2/43 |
| Thick hair | 4.7% | 2/43 |
| Absent fifth fingernail | 2.3% | 1/43 |
| Absent thumbnail | 2.3% | 1/43 |
| Absent fingernail | 2.3% | 1/43 |
| Aplastic/hypoplastic toenail | 2.3% | 1/43 |
| Capillary hemangiomas | 2.3% | 1/43 |
| Dystrophic toenail | 2.3% | 1/43 |
| Low anterior hairline | 2.3% | 1/43 |
| Nail dystrophy | 2.3% | 1/43 |
| Pallor | 2.3% | 1/43 |
| Supernumerary nipple | 2.3% | 1/43 |
| Synophrys | 2.3% | 1/43 |
| Thick eyebrow | 2.3% | 1/43 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 20.0% | 1/5 |
| Hypothyroidism | 20.0% | 1/5 |
| Abnormality of the metabolic system | 14.3% | 1/7 |
| Hyperammonemia | 14.3% | 1/7 |
| Abnormality of the immune system | 40.0% | 2/5 |
| Respiratory tract infection | 40.0% | 2/5 |