WDR26

Graph and Chart

Patient Overview : 24

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 45.8% 11/24
Female 54.2% 13/24
Neurology    
Neurological abnormalities 91.7% 22/24
Seizures 29.2% 7/24
EEG abnormality 25.0% 6/24
Muscular hypotonia 54.2% 13/24
Febrile seizures 50.0% 12/24
Spastic gait 8.3% 2/24
Spastic diplegia 4.2% 1/24
Gait disturbance 8.3% 2/24
Cranial nerve VI palsy 4.2% 1/24
Action tremor 4.2% 1/24
Broad-based gait 16.7% 4/24
Hemiparesis 8.3% 2/24
Brisk reflexes 8.3% 2/24
Hyperactive patellar reflex 4.2% 1/24
Generalized tonic-clonic seizures 16.7% 4/24
Absence seizures 12.5% 3/24
Limb hypertonia 4.2% 1/24
EEG with generalized epileptiform discharges 4.2% 1/24
Multifocal epileptiform discharges 4.2% 1/24
Focal epileptiform discharges with limited propagation to contralateral hemisphere 4.2% 1/24
Migraine 4.2% 1/24
Gait ataxia 8.3% 2/24
EEG with frontal focal spikes 4.2% 1/24
Developmental regression 4.2% 1/24
Stereotypic behavior 4.2% 1/24
Behavioral problems 72.7% 16/22
Autism 27.3% 6/22
Stereotypical hand wringing 9.1% 2/22
Bruxism 9.1% 2/22
Dysarthria 4.5% 1/22
Sleep disturbance 9.1% 2/22
Stereotypic behavior 31.8% 7/22
Absent speech 22.7% 5/22
Drooling 4.5% 1/22
Broad-based gait 4.5% 1/22
Abnormal social behavior 4.5% 1/22
Stereotypical body rocking 9.1% 2/22
Recurrent hand flapping 4.5% 1/22
Autistic behavior 4.5% 1/22
Hair-pulling 4.5% 1/22
Self-biting 4.5% 1/22
Developmental regression 4.5% 1/22
Anxiety 22.7% 5/22
Polyphagia 4.5% 1/22
Tics 4.5% 1/22
Attention deficit hyperactivity disorder 9.1% 2/22
Speech apraxia 4.5% 1/22
Poor coordination 4.5% 1/22
Disinhibition 4.5% 1/22
Self-injurious behavior 4.5% 1/22
Aggressive behavior 4.5% 1/22
Pica 4.5% 1/22
Inappropriate laughter 4.5% 1/22
Personality changes 4.5% 1/22
Brain abnormality 68.2% 15/22
Dilation of lateral ventricles 9.1% 2/22
Morphological abnormality of the central nervous system 4.5% 1/22
Abnormality of the cerebral white matter 18.2% 4/22
Abnormality of the corpus callosum 27.3% 6/22
Arachnoid cyst 9.1% 2/22
Periventricular leukomalacia 4.5% 1/22
Pineal cyst 18.2% 4/22
Asymmetric ventricles 4.5% 1/22
Cerebellar hemisphere hypoplasia 4.5% 1/22
Cerebellar vermis hypoplasia 4.5% 1/22
Pachygyria 4.5% 1/22
Abnormality of the cerebrum 9.1% 2/22
Abnormality of brain morphology 4.5% 1/22
Perivascular spaces 4.5% 1/22
Ventriculomegaly 4.5% 1/22
Abnormality of forebrain morphology 4.5% 1/22
Polymicrogyria, anterior to posterior gradient 4.5% 1/22
Hypoplasia of the corpus callosum 4.5% 1/22
Facial abnormalities    
Abnormality of the ear 20.8% 5/24
Mild conductive hearing impairment 4.2% 1/24
Posteriorly rotated ears 8.3% 2/24
Round ear 4.2% 1/24
Protruding ear 4.2% 1/24
Low-set ears 4.2% 1/24
Thickened ears 4.2% 1/24
Cupped ear 4.2% 1/24
Overfolded helix 4.2% 1/24
Abnormality of the eye 95.8% 23/24
Downslanted palpebral fissures 4.2% 1/24
Abnormality of eye movement 4.2% 1/24
Strabismus 4.2% 1/24
Large eyes 41.7% 10/24
Proptosis 12.5% 3/24
Upslanted palpebral fissure 16.7% 4/24
Chalazion 4.2% 1/24
Abnormality of the conjunctiva 4.2% 1/24
Blue irides 4.2% 1/24
Hypertelorism 20.8% 5/24
Abnormality of the palpebral fissures 8.3% 2/24
Infra-orbital crease 20.8% 5/24
Abnormality of the iris 16.7% 4/24
Abnormal shape of the palpebral fissure 12.5% 3/24
Iris nevus 4.2% 1/24
Horizontal eyebrow 4.2% 1/24
Long eyelashes 4.2% 1/24
Abnormality of the nose 95.8% 23/24
Midface retrusion 4.2% 1/24
Depressed nasal bridge 45.8% 11/24
Short nasal bridge 20.8% 5/24
Anteverted nares 54.2% 13/24
Broad nasal tip 75.0% 18/24
Narrow naris 8.3% 2/24
Low hanging columella 4.2% 1/24
Short nose 4.2% 1/24
Abnormality of the mouth 95.8% 23/24
Tented upper lip vermilion 4.2% 1/24
Hyperplasia of the maxilla 66.7% 16/24
Widely spaced teeth 66.7% 16/24
Micrognathia 20.8% 5/24
Thin upper lip vermilion 12.5% 3/24
Absent cupid's bow 66.7% 16/24
Persistence of primary teeth 20.8% 5/24
Thick vermilion border 37.5% 9/24
Wide mouth 41.7% 10/24
Abnormality of the gingiva 45.8% 11/24
Delayed eruption of primary teeth 8.3% 2/24
Broad secondary alveolar ridge 4.2% 1/24
Fibrous syngnathia 4.2% 1/24
Open mouth 8.3% 2/24
Mandibular prognathia 4.2% 1/24
Cleft soft palate 8.3% 2/24
Thick lower lip vermilion 4.2% 1/24
Diastema 4.2% 1/24
Agenesis of lateral incisor 4.2% 1/24
Pierre-Robin sequence 4.2% 1/24
Abnormality of the tongue 4.2% 1/24
Incisor macrodontia 4.2% 1/24
Widely-spaced maxillary central incisors 4.2% 1/24
Visual and hearing impairments    
Abnormal hearing 13.0% 3/23
Mild conductive hearing impairment 4.3% 1/23
Blocked Eustachian tube 4.3% 1/23
Mild hearing impairment 4.3% 1/23
Abnormal vision 56.5% 13/23
Hypermetropia 26.1% 6/23
Astigmatism 4.3% 1/23
Myopia 8.7% 2/23
Abnormality of vision 4.3% 1/23
Exotropia 4.3% 1/23
Amblyopia 8.7% 2/23
Strabismus 30.4% 7/23
Anisometropia 4.3% 1/23
Heart    
Abnormality of the heart 10.0% 2/20
Right aortic arch 5.0% 1/20
Ventricular septal defect 5.0% 1/20
Gastrointestinal    
Gastrointestinal abnormalities 34.8% 8/23
Gastroesophageal reflux 21.7% 5/23
Constipation 17.4% 4/23
Intermittent diarrhea 4.3% 1/23
Gastrostomy tube feeding in infancy 4.3% 1/23
Diarrhea 4.3% 1/23
Urogenital    
Abnormality of the urogenital system 15.0% 3/20
Cryptorchidism 5.0% 1/20
Inguinal hernia 5.0% 1/20
Unilateral cryptorchidism 10.0% 2/20
Skeleton    
Skeletal abnormalities 76.2% 16/21
Small hand 4.8% 1/21
Proximal placement of thumb 4.8% 1/21
Clinodactyly of the 5th finger 19.0% 4/21
Short foot 9.5% 2/21
Pectus carinatum 9.5% 2/21
Torticollis 4.8% 1/21
Short stature 9.5% 2/21
Pes planus 9.5% 2/21
Sandal gap 4.8% 1/21
Abnormality of the 2nd toe 4.8% 1/21
Pectus excavatum 4.8% 1/21
Sacral dimple 4.8% 1/21
Knee flexion contracture 4.8% 1/21
Scoliosis 4.8% 1/21
Osteopathia striata 4.8% 1/21
Pes cavus 9.5% 2/21
Limited hip extension 4.8% 1/21
Limited knee extension 4.8% 1/21
Proportionate shortening of all digits 4.8% 1/21
Metatarsus adductus 4.8% 1/21
Hip dysplasia 4.8% 1/21
Short 5th finger 4.8% 1/21
Joint stiffness 4.8% 1/21
Congenital hip dislocation 4.8% 1/21
Thoracic kyphosis 4.8% 1/21
Genu valgum 4.8% 1/21
Long fingers 4.8% 1/21
Tapering pointed ends of distal finger phalanges 4.8% 1/21
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 52.2% 12/23
Concave nail 4.3% 1/23
Localized hirsutism 4.3% 1/23
Hyperconvex nail 4.3% 1/23
Sparse lateral eyebrow 26.1% 6/23
Reduced subcutaneous adipose tissue 4.3% 1/23
Cutis marmorata 4.3% 1/23
Eczema 8.7% 2/23
Inverted nipples 8.7% 2/23
Thin nail 4.3% 1/23
Abnormality of the palmar creases 4.3% 1/23
Abnormality of the eyebrow 17.4% 4/23
Congenital giant melanocytic nevus 4.3% 1/23
Endocrine / Immunological / Metabolic    
Abnormality of the metabolic system 4.2% 1/24
Elevated hepatic transaminases 4.2% 1/24
Abnormality of the immune system 36.8% 7/19
Recurrent otitis media 21.1% 4/19
Chronic otitis media 5.3% 1/19
Allergy 5.3% 1/19
Recurrent sinusitis 5.3% 1/19
Recurrent infections 5.3% 1/19