MED13L
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 47.2% | 17/36 |
| Female | 52.8% | 19/36 |
| Indifferent | 0% | 0/36 |
| Unknown | 0% | 0/36 |
| General | ||
| Birth Length abnormalities | 20.8% | 5/24 |
| < P3 : Birth length less than 3rd percentile | 12.5% | 3/24 |
| > P98 : Birth length greater than 97th percentile | 8.3% | 2/24 |
| Birth Weight abnormalities | 28.0% | 7/25 |
| < P3 : Small for gestational age | 28.0% | 7/25 |
| Birth Head circumference abnormalities | 17.4% | 4/23 |
| < P3 : Congenital microcephaly | 13.0% | 3/23 |
| > P98 : Macrocephaly at birth | 4.3% | 1/23 |
| Current Height abnormalities | 12.0% | 3/25 |
| < P3 : Short stature | 12.0% | 3/25 |
| Current Weight abnormalities | 15.4% | 4/26 |
| > P98 : Increased body weight | 7.7% | 2/26 |
| < P3 : Decreased body weight | 7.7% | 2/26 |
| Current Head circumference abnormalities | 16.7% | 4/24 |
| > P98 : Macrocephaly | 12.5% | 3/24 |
| < P3 : Microcephaly | 4.2% | 1/24 |
| Neurology | ||
| Neurological abnormalities | 82.4% | 28/34 |
| Muscular hypotonia | 44.1% | 15/34 |
| Absent speech | 23.5% | 8/34 |
| Seizures | 14.7% | 5/34 |
| Inability to walk | 11.8% | 4/34 |
| Ataxia | 5.9% | 2/34 |
| Intellectual disability | 5.9% | 2/34 |
| Limb hypertonia | 5.9% | 2/34 |
| Moderate global developmental delay | 5.9% | 2/34 |
| Muscle weakness | 5.9% | 2/34 |
| Muscular hypotonia of the trunk | 5.9% | 2/34 |
| Neurodevelopmental delay | 5.9% | 2/34 |
| Abnormality of coordination | 2.9% | 1/34 |
| Absence seizures | 2.9% | 1/34 |
| Broad-based gait | 2.9% | 1/34 |
| Chorea | 2.9% | 1/34 |
| Delayed speech and language development | 2.9% | 1/34 |
| Delayed fine motor development | 2.9% | 1/34 |
| Dystonia | 2.9% | 1/34 |
| Febrile seizures | 2.9% | 1/34 |
| Gait disturbance | 2.9% | 1/34 |
| Gait ataxia | 2.9% | 1/34 |
| Generalized hypotonia | 2.9% | 1/34 |
| Global developmental delay | 2.9% | 1/34 |
| Language impairment | 2.9% | 1/34 |
| Neonatal hypotonia | 2.9% | 1/34 |
| Neurodevelopmental abnormality | 2.9% | 1/34 |
| Nystagmus | 2.9% | 1/34 |
| Poor coordination | 2.9% | 1/34 |
| Postural instability | 2.9% | 1/34 |
| Severe muscular hypotonia | 2.9% | 1/34 |
| Spastic paraparesis | 2.9% | 1/34 |
| Speech apraxia | 2.9% | 1/34 |
| Behavioral problems | 35.3% | 12/34 |
| Autism | 8.8% | 3/34 |
| Autistic behavior | 5.9% | 2/34 |
| Abnormal eating behavior | 2.9% | 1/34 |
| Abnormal drinking behavior | 2.9% | 1/34 |
| Abnormal aggressive, impulsive or violent behavior | 2.9% | 1/34 |
| Aggressive behavior | 2.9% | 1/34 |
| Delayed speech and language development | 2.9% | 1/34 |
| Hyperactivity | 2.9% | 1/34 |
| Inappropriate laughter | 2.9% | 1/34 |
| Sleep disturbance | 2.9% | 1/34 |
| Stereotypic behavior | 2.9% | 1/34 |
| Brain abnormality | 48.0% | 12/25 |
| Abnormality of the cerebral white matter | 8.0% | 2/25 |
| Ventriculomegaly | 8.0% | 2/25 |
| Cavum septum pellucidum | 4.0% | 1/25 |
| Cerebral cortical atrophy | 4.0% | 1/25 |
| Cerebral hypomyelination | 4.0% | 1/25 |
| Cerebral atrophy | 4.0% | 1/25 |
| Dandy-Walker malformation | 4.0% | 1/25 |
| Delayed myelination | 4.0% | 1/25 |
| Hypoplasia of the corpus callosum | 4.0% | 1/25 |
| Partial agenesis of the corpus callosum | 4.0% | 1/25 |
| Perivascular spaces | 4.0% | 1/25 |
| Polymicrogyria | 4.0% | 1/25 |
| Punctate periventricular T2 hyperintense foci | 4.0% | 1/25 |
| Facial abnormalities | ||
| Abnormality of the ear | 40.0% | 14/35 |
| Low-set ears | 25.7% | 9/35 |
| Large fleshy ears | 8.6% | 3/35 |
| Abnormality of earlobe | 5.7% | 2/35 |
| Anteverted ears | 2.9% | 1/35 |
| Large earlobe | 2.9% | 1/35 |
| Macrotia | 2.9% | 1/35 |
| Preauricular pit | 2.9% | 1/35 |
| Abnormality of the eye | 60.0% | 21/35 |
| Upslanted palpebral fissure | 25.7% | 9/35 |
| Long eyelashes | 14.3% | 5/35 |
| Horizontal eyebrow | 11.4% | 4/35 |
| Epicanthus | 8.6% | 3/35 |
| Downslanted palpebral fissures | 5.7% | 2/35 |
| Abnormality of the eyelid | 2.9% | 1/35 |
| Bilateral ptosis | 2.9% | 1/35 |
| Bilateral microphthalmos | 2.9% | 1/35 |
| Blepharophimosis | 2.9% | 1/35 |
| Epicanthus inversus | 2.9% | 1/35 |
| Esotropia | 2.9% | 1/35 |
| Highly arched eyebrow | 2.9% | 1/35 |
| Hyperopic astigmatism | 2.9% | 1/35 |
| Hypertelorism | 2.9% | 1/35 |
| Prominent epicanthal folds | 2.9% | 1/35 |
| Ptosis | 2.9% | 1/35 |
| Short palpebral fissure | 2.9% | 1/35 |
| Strabismus | 2.9% | 1/35 |
| Synophrys | 2.9% | 1/35 |
| Unilateral ptosis | 2.9% | 1/35 |
| Abnormality of the nose | 65.7% | 23/35 |
| Prominent nasal tip | 31.4% | 11/35 |
| Deep philtrum | 25.7% | 9/35 |
| Bulbous nose | 17.1% | 6/35 |
| Depressed nasal bridge | 14.3% | 5/35 |
| Abnormality of the external nose | 2.9% | 1/35 |
| Prominent nose | 2.9% | 1/35 |
| Short nose | 2.9% | 1/35 |
| Short philtrum | 2.9% | 1/35 |
| Wide nasal bridge | 2.9% | 1/35 |
| Wide nose | 2.9% | 1/35 |
| Abnormality of the mouth | 77.1% | 27/35 |
| Open mouth | 45.7% | 16/35 |
| Exaggerated cupid's bow | 20.0% | 7/35 |
| Macroglossia | 11.4% | 4/35 |
| Thin vermilion border | 11.4% | 4/35 |
| Protruding tongue | 8.6% | 3/35 |
| Wide mouth | 8.6% | 3/35 |
| Thin upper lip vermilion | 5.7% | 2/35 |
| Abnormality of upper lip | 2.9% | 1/35 |
| Ankyloglossia | 2.9% | 1/35 |
| Deep philtrum | 2.9% | 1/35 |
| High forehead | 2.9% | 1/35 |
| Mandibular prognathia | 2.9% | 1/35 |
| Movement abnormality of the tongue | 2.9% | 1/35 |
| Narrow forehead | 2.9% | 1/35 |
| Short philtrum | 2.9% | 1/35 |
| Thick vermilion border | 2.9% | 1/35 |
| Visual and hearing impairments | ||
| Abnormal hearing | 8.8% | 3/34 |
| Hearing impairment | 2.9% | 1/34 |
| Mild conductive hearing impairment | 2.9% | 1/34 |
| Abnormal vision | 32.4% | 11/34 |
| Hypermetropia | 8.8% | 3/34 |
| Strabismus | 8.8% | 3/34 |
| Astigmatism | 5.9% | 2/34 |
| Alternating esotropia | 2.9% | 1/34 |
| Duane anomaly | 2.9% | 1/34 |
| High-grade hypermetropia | 2.9% | 1/34 |
| Hyperopic astigmatism | 2.9% | 1/34 |
| Myopia | 2.9% | 1/34 |
| Heart | ||
| Abnormality of the heart | 20.0% | 7/35 |
| Tetralogy of Fallot | 8.6% | 3/35 |
| Patent foramen ovale | 5.7% | 2/35 |
| Pulmonary valve atresia | 5.7% | 2/35 |
| Ventricular septal defect | 5.7% | 2/35 |
| Cardiac total anomalous pulmonary venous connection | 2.9% | 1/35 |
| Supracardiac total anomalous pulmonary venous connection | 2.9% | 1/35 |
| Pulmonary | ||
| Abnormality of the lungs | 37.5% | 3/8 |
| Recurrent bronchitis | 12.5% | 1/8 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 20.0% | 7/35 |
| Gastroesophageal reflux | 5.7% | 2/35 |
| Abdominal pain | 2.9% | 1/35 |
| Anteriorly placed anus | 2.9% | 1/35 |
| Constipation | 2.9% | 1/35 |
| Enterocolitis | 2.9% | 1/35 |
| Meckel diverticulum | 2.9% | 1/35 |
| Urogenital | ||
| Abnormality of the urogenital system | 17.1% | 6/35 |
| Abnormality of the kidney | 2.9% | 1/35 |
| Abnormality of the testis | 2.9% | 1/35 |
| Glandular hypospadias | 2.9% | 1/35 |
| Hydroureter | 2.9% | 1/35 |
| Unilateral cryptorchidism | 2.9% | 1/35 |
| Ureter duplex | 2.9% | 1/35 |
| Skeleton | ||
| Skeletal abnormalities | 65.7% | 23/35 |
| Brachycephaly | 11.4% | 4/35 |
| Bilateral talipes equinovarus | 8.6% | 3/35 |
| Talipes equinovarus | 8.6% | 3/35 |
| Lumbar hyperlordosis | 5.7% | 2/35 |
| Metatarsus adductus | 5.7% | 2/35 |
| Overlapping toe | 5.7% | 2/35 |
| Sandal gap | 5.7% | 2/35 |
| Bowing of the legs | 2.9% | 1/35 |
| Camptodactyly of finger | 2.9% | 1/35 |
| Clinodactyly | 2.9% | 1/35 |
| Congenital foot contraction deformities | 2.9% | 1/35 |
| Craniosynostosis | 2.9% | 1/35 |
| Flexion contracture of thumb | 2.9% | 1/35 |
| Hip contracture | 2.9% | 1/35 |
| Joint hypermobility | 2.9% | 1/35 |
| Kyphoscoliosis | 2.9% | 1/35 |
| Long toe | 2.9% | 1/35 |
| Scoliosis | 2.9% | 1/35 |
| Spinal canal stenosis | 2.9% | 1/35 |
| Tapered finger | 2.9% | 1/35 |
| Toe clinodactyly | 2.9% | 1/35 |
| 3-5 toe syndactyly | 2.9% | 1/35 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 22.9% | 8/35 |
| Crusting erythematous dermatitis | 2.9% | 1/35 |
| Eczema | 2.9% | 1/35 |
| High forehead | 2.9% | 1/35 |
| Inguinal hernia | 2.9% | 1/35 |
| Nevus | 2.9% | 1/35 |
| Supernumerary nipple | 2.9% | 1/35 |
| Sydney crease | 2.9% | 1/35 |
| Thick hair | 2.9% | 1/35 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 2.9% | 1/35 |
| Susceptibility to herpesvirus | 2.9% | 1/35 |
| Neoplasia | ||
| Neoplasia | 5.7% | 2/35 |
| Acute lymphoblastic leukemia | 2.9% | 1/35 |