MED13L

Graph and Chart

Patient Overview : 36

General

Frequency of all clinical findings

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 20.0% 5/25
< P3 : Birth length less than 3rd percentile 12.0% 3/25
> P98 : Birth length greater than 97th percentile 8.0% 2/25
Birth Weight abnormalities 26.9% 7/26
< P3 : Small for gestational age 26.9% 7/26
Birth Head circumference abnormalities 16.7% 4/24
< P3 : Congenital microcephaly 12.5% 3/24
> P98 : Macrocephaly at birth 4.2% 1/24
Current Height abnormalities 11.5% 3/26
< P3 : Short stature 11.5% 3/26
Current Weight abnormalities 18.5% 5/27
> P98 : Increased body weight 11.1% 3/27
< P3 : Decreased body weight 7.4% 2/27
Current Head circumference abnormalities 16.0% 4/25
> P98 : Macrocephaly 12.0% 3/25
< P3 : Microcephaly 4.0% 1/25
Neurology    
Neurological abnormalities 82.9% 29/35
Muscular hypotonia 45.7% 16/35
Absent speech 22.9% 8/35
Seizures 14.3% 5/35
Inability to walk 11.4% 4/35
Ataxia 5.7% 2/35
Intellectual disability 5.7% 2/35
Limb hypertonia 5.7% 2/35
Moderate global developmental delay 5.7% 2/35
Muscle weakness 5.7% 2/35
Muscular hypotonia of the trunk 5.7% 2/35
Neurodevelopmental delay 5.7% 2/35
Speech apraxia 5.7% 2/35
Abnormality of coordination 2.9% 1/35
Absence seizures 2.9% 1/35
Broad-based gait 2.9% 1/35
Chorea 2.9% 1/35
Delayed fine motor development 2.9% 1/35
Delayed speech and language development 2.9% 1/35
Dystonia 2.9% 1/35
Facial hypotonia 2.9% 1/35
Febrile seizures 2.9% 1/35
Gait disturbance 2.9% 1/35
Gait ataxia 2.9% 1/35
Generalized hypotonia 2.9% 1/35
Global developmental delay 2.9% 1/35
Language impairment 2.9% 1/35
Neonatal hypotonia 2.9% 1/35
Neurodevelopmental abnormality 2.9% 1/35
Nystagmus 2.9% 1/35
Poor coordination 2.9% 1/35
Postural instability 2.9% 1/35
Severe muscular hypotonia 2.9% 1/35
Spastic paraparesis 2.9% 1/35
Behavioral problems 37.1% 13/35
Autism 8.6% 3/35
Autistic behavior 5.7% 2/35
Abnormal drinking behavior 2.9% 1/35
Abnormal eating behavior 2.9% 1/35
Abnormal aggressive, impulsive or violent behavior 2.9% 1/35
Aggressive behavior 2.9% 1/35
Behavioral abnormality 2.9% 1/35
Delayed speech and language development 2.9% 1/35
Hyperactivity 2.9% 1/35
Inappropriate laughter 2.9% 1/35
Oppositional defiant disorder 2.9% 1/35
Sleep disturbance 2.9% 1/35
Stereotypic behavior 2.9% 1/35
Brain abnormality 50.0% 13/26
Abnormality of the cerebral white matter 7.7% 2/26
Ventriculomegaly 7.7% 2/26
Cavum septum pellucidum 3.8% 1/26
Cerebral atrophy 3.8% 1/26
Cerebral cortical atrophy 3.8% 1/26
Cerebral hypomyelination 3.8% 1/26
Dandy-Walker malformation 3.8% 1/26
Delayed myelination 3.8% 1/26
Dilated third ventricle 3.8% 1/26
Dilation of lateral ventricles 3.8% 1/26
Hypoplasia of the corpus callosum 3.8% 1/26
Limbic malformations 3.8% 1/26
Partial agenesis of the corpus callosum 3.8% 1/26
Perivascular spaces 3.8% 1/26
Polymicrogyria 3.8% 1/26
Punctate periventricular T2 hyperintense foci 3.8% 1/26
Facial abnormalities    
Abnormality of the ear 41.7% 15/36
Low-set ears 25.0% 9/36
Large fleshy ears 11.1% 4/36
Abnormality of earlobe 5.6% 2/36
Anteverted ears 2.8% 1/36
Large earlobe 2.8% 1/36
Macrotia 2.8% 1/36
Preauricular pit 2.8% 1/36
Abnormality of the eye 61.1% 22/36
Upslanted palpebral fissure 25.0% 9/36
Long eyelashes 13.9% 5/36
Horizontal eyebrow 11.1% 4/36
Epicanthus 8.3% 3/36
Downslanted palpebral fissures 5.6% 2/36
Abnormality of the eyelid 2.8% 1/36
Almond-shaped palpebral fissure 2.8% 1/36
Bilateral ptosis 2.8% 1/36
Bilateral microphthalmos 2.8% 1/36
Blepharophimosis 2.8% 1/36
Epicanthus inversus 2.8% 1/36
Esotropia 2.8% 1/36
Highly arched eyebrow 2.8% 1/36
Hyperopic astigmatism 2.8% 1/36
Hypertelorism 2.8% 1/36
Prominent epicanthal folds 2.8% 1/36
Ptosis 2.8% 1/36
Short palpebral fissure 2.8% 1/36
Strabismus 2.8% 1/36
Synophrys 2.8% 1/36
Unilateral ptosis 2.8% 1/36
Abnormality of the nose 66.7% 24/36
Prominent nasal tip 30.6% 11/36
Deep philtrum 25.0% 9/36
Bulbous nose 16.7% 6/36
Depressed nasal bridge 13.9% 5/36
Abnormality of the external nose 2.8% 1/36
Broad nasal tip 2.8% 1/36
Prominent nose 2.8% 1/36
Short nose 2.8% 1/36
Short philtrum 2.8% 1/36
Wide nasal bridge 2.8% 1/36
Wide nose 2.8% 1/36
Abnormality of the mouth 77.8% 28/36
Open mouth 44.4% 16/36
Exaggerated cupid's bow 19.4% 7/36
Macroglossia 11.1% 4/36
Thin vermilion border 11.1% 4/36
Protruding tongue 8.3% 3/36
Wide mouth 8.3% 3/36
Thin upper lip vermilion 5.6% 2/36
Abnormality of upper lip 2.8% 1/36
Ankyloglossia 2.8% 1/36
Deep philtrum 2.8% 1/36
Everted lower lip vermilion 2.8% 1/36
High forehead 2.8% 1/36
Mandibular prognathia 2.8% 1/36
Movement abnormality of the tongue 2.8% 1/36
Narrow forehead 2.8% 1/36
Short philtrum 2.8% 1/36
Thick vermilion border 2.8% 1/36
Visual and hearing impairments    
Abnormal hearing 8.6% 3/35
Hearing impairment 2.9% 1/35
Mild conductive hearing impairment 2.9% 1/35
Abnormal vision 31.4% 11/35
Hypermetropia 8.6% 3/35
Strabismus 8.6% 3/35
Astigmatism 5.7% 2/35
Alternating esotropia 2.9% 1/35
Duane anomaly 2.9% 1/35
High-grade hypermetropia 2.9% 1/35
Hyperopic astigmatism 2.9% 1/35
Myopia 2.9% 1/35
Heart    
Abnormality of the heart 19.4% 7/36
Tetralogy of Fallot 8.3% 3/36
Patent foramen ovale 5.6% 2/36
Pulmonary valve atresia 5.6% 2/36
Ventricular septal defect 5.6% 2/36
Cardiac total anomalous pulmonary venous connection 2.8% 1/36
Supracardiac total anomalous pulmonary venous connection 2.8% 1/36
Pulmonary    
Abnormality of the lungs 37.5% 3/8
Recurrent bronchitis 12.5% 1/8
Gastrointestinal    
Gastrointestinal abnormalities 19.4% 7/36
Gastroesophageal reflux 5.6% 2/36
Abdominal pain 2.8% 1/36
Anteriorly placed anus 2.8% 1/36
Constipation 2.8% 1/36
Enterocolitis 2.8% 1/36
Meckel diverticulum 2.8% 1/36
Urogenital    
Abnormality of the urogenital system 19.4% 7/36
Abnormality of the testis 2.8% 1/36
Abnormality of the kidney 2.8% 1/36
Glandular hypospadias 2.8% 1/36
Hydroureter 2.8% 1/36
Inguinal hernia 2.8% 1/36
Unilateral cryptorchidism 2.8% 1/36
Ureter duplex 2.8% 1/36
Skeleton    
Skeletal abnormalities 66.7% 24/36
Brachycephaly 11.1% 4/36
Bilateral talipes equinovarus 8.3% 3/36
Talipes equinovarus 8.3% 3/36
Lumbar hyperlordosis 5.6% 2/36
Metatarsus adductus 5.6% 2/36
Overlapping toe 5.6% 2/36
Sandal gap 5.6% 2/36
Tapered finger 5.6% 2/36
Bowing of the legs 2.8% 1/36
Camptodactyly of finger 2.8% 1/36
Clinodactyly of the 4th toe 2.8% 1/36
Clinodactyly of the 5th toe 2.8% 1/36
Clinodactyly 2.8% 1/36
Congenital foot contraction deformities 2.8% 1/36
Craniosynostosis 2.8% 1/36
Flexion contracture of thumb 2.8% 1/36
Hip contracture 2.8% 1/36
Joint hypermobility 2.8% 1/36
Kyphoscoliosis 2.8% 1/36
Long toe 2.8% 1/36
Scoliosis 2.8% 1/36
Spinal canal stenosis 2.8% 1/36
Toe clinodactyly 2.8% 1/36
3-5 toe syndactyly 2.8% 1/36
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 22.2% 8/36
Crusting erythematous dermatitis 2.8% 1/36
Eczema 2.8% 1/36
High forehead 2.8% 1/36
Inguinal hernia 2.8% 1/36
Nevus 2.8% 1/36
Supernumerary nipple 2.8% 1/36
Sydney crease 2.8% 1/36
Thick hair 2.8% 1/36
Endocrine / Immunological / Metabolic    
Abnormality of the immune system 2.8% 1/36
Susceptibility to herpesvirus 2.8% 1/36
Neoplasia    
Neoplasia 5.6% 2/36
Acute lymphoblastic leukemia 2.8% 1/36