WDR26
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 45.8% | 11/24 |
| Female | 54.2% | 13/24 |
| Indifferent | 0% | 0/24 |
| Unknown | 0% | 0/24 |
| General | ||
| Birth Length abnormalities | 20.8% | 5/24 |
| < P3 : Birth length less than 3rd percentile | 20.8% | 5/24 |
| Birth Weight abnormalities | 25.0% | 6/24 |
| < P3 : Small for gestational age | 25.0% | 6/24 |
| Birth Head circumference abnormalities | 8.3% | 2/24 |
| < P3 : Congenital microcephaly | 8.3% | 2/24 |
| Current Height abnormalities | 20.8% | 5/24 |
| < P3 : Short stature | 20.8% | 5/24 |
| Current Weight abnormalities | 33.3% | 8/24 |
| < P3 : Decreased body weight | 29.2% | 7/24 |
| > P98 : Increased body weight | 4.2% | 1/24 |
| Current Head circumference abnormalities | 16.7% | 4/24 |
| < P3 : Microcephaly | 16.7% | 4/24 |
| Neurology | ||
| Neurological abnormalities | 91.7% | 22/24 |
| Muscular hypotonia | 54.2% | 13/24 |
| Febrile seizures | 50.0% | 12/24 |
| Seizures | 29.2% | 7/24 |
| EEG abnormality | 25.0% | 6/24 |
| Broad-based gait | 16.7% | 4/24 |
| Generalized tonic-clonic seizures | 16.7% | 4/24 |
| Absence seizures | 12.5% | 3/24 |
| Brisk reflexes | 8.3% | 2/24 |
| Gait ataxia | 8.3% | 2/24 |
| Gait disturbance | 8.3% | 2/24 |
| Hemiparesis | 8.3% | 2/24 |
| Spastic gait | 8.3% | 2/24 |
| Action tremor | 4.2% | 1/24 |
| Cranial nerve VI palsy | 4.2% | 1/24 |
| Developmental regression | 4.2% | 1/24 |
| EEG with frontal focal spikes | 4.2% | 1/24 |
| EEG with generalized epileptiform discharges | 4.2% | 1/24 |
| Focal epileptiform discharges with limited propagation to contralateral hemisphere | 4.2% | 1/24 |
| Hyperactive patellar reflex | 4.2% | 1/24 |
| Limb hypertonia | 4.2% | 1/24 |
| Migraine | 4.2% | 1/24 |
| Multifocal epileptiform discharges | 4.2% | 1/24 |
| Spastic diplegia | 4.2% | 1/24 |
| Stereotypic behavior | 4.2% | 1/24 |
| Behavioral problems | 72.7% | 16/22 |
| Stereotypic behavior | 31.8% | 7/22 |
| Autism | 27.3% | 6/22 |
| Absent speech | 22.7% | 5/22 |
| Anxiety | 22.7% | 5/22 |
| Attention deficit hyperactivity disorder | 9.1% | 2/22 |
| Bruxism | 9.1% | 2/22 |
| Sleep disturbance | 9.1% | 2/22 |
| Stereotypical body rocking | 9.1% | 2/22 |
| Stereotypical hand wringing | 9.1% | 2/22 |
| Abnormal social behavior | 4.5% | 1/22 |
| Aggressive behavior | 4.5% | 1/22 |
| Autistic behavior | 4.5% | 1/22 |
| Broad-based gait | 4.5% | 1/22 |
| Developmental regression | 4.5% | 1/22 |
| Disinhibition | 4.5% | 1/22 |
| Drooling | 4.5% | 1/22 |
| Dysarthria | 4.5% | 1/22 |
| Hair-pulling | 4.5% | 1/22 |
| Inappropriate laughter | 4.5% | 1/22 |
| Personality changes | 4.5% | 1/22 |
| Pica | 4.5% | 1/22 |
| Polyphagia | 4.5% | 1/22 |
| Poor coordination | 4.5% | 1/22 |
| Recurrent hand flapping | 4.5% | 1/22 |
| Self-injurious behavior | 4.5% | 1/22 |
| Self-biting | 4.5% | 1/22 |
| Speech apraxia | 4.5% | 1/22 |
| Tics | 4.5% | 1/22 |
| Brain abnormality | 68.2% | 15/22 |
| Abnormality of the corpus callosum | 27.3% | 6/22 |
| Abnormality of the cerebral white matter | 18.2% | 4/22 |
| Pineal cyst | 18.2% | 4/22 |
| Abnormality of the cerebrum | 9.1% | 2/22 |
| Arachnoid cyst | 9.1% | 2/22 |
| Dilation of lateral ventricles | 9.1% | 2/22 |
| Abnormality of brain morphology | 4.5% | 1/22 |
| Abnormality of forebrain morphology | 4.5% | 1/22 |
| Asymmetric ventricles | 4.5% | 1/22 |
| Cerebellar hemisphere hypoplasia | 4.5% | 1/22 |
| Cerebellar vermis hypoplasia | 4.5% | 1/22 |
| Hypoplasia of the corpus callosum | 4.5% | 1/22 |
| Morphological abnormality of the central nervous system | 4.5% | 1/22 |
| Pachygyria | 4.5% | 1/22 |
| Perivascular spaces | 4.5% | 1/22 |
| Periventricular leukomalacia | 4.5% | 1/22 |
| Polymicrogyria, anterior to posterior gradient | 4.5% | 1/22 |
| Ventriculomegaly | 4.5% | 1/22 |
| Facial abnormalities | ||
| Abnormality of the ear | 20.8% | 5/24 |
| Posteriorly rotated ears | 8.3% | 2/24 |
| Cupped ear | 4.2% | 1/24 |
| Low-set ears | 4.2% | 1/24 |
| Mild conductive hearing impairment | 4.2% | 1/24 |
| Overfolded helix | 4.2% | 1/24 |
| Protruding ear | 4.2% | 1/24 |
| Round ear | 4.2% | 1/24 |
| Thickened ears | 4.2% | 1/24 |
| Abnormality of the eye | 95.8% | 23/24 |
| Large eyes | 41.7% | 10/24 |
| Hypertelorism | 20.8% | 5/24 |
| Infra-orbital crease | 20.8% | 5/24 |
| Abnormality of the iris | 16.7% | 4/24 |
| Upslanted palpebral fissure | 16.7% | 4/24 |
| Abnormal shape of the palpebral fissure | 12.5% | 3/24 |
| Proptosis | 12.5% | 3/24 |
| Abnormality of the palpebral fissures | 8.3% | 2/24 |
| Abnormality of the conjunctiva | 4.2% | 1/24 |
| Abnormality of eye movement | 4.2% | 1/24 |
| Blue irides | 4.2% | 1/24 |
| Chalazion | 4.2% | 1/24 |
| Downslanted palpebral fissures | 4.2% | 1/24 |
| Horizontal eyebrow | 4.2% | 1/24 |
| Iris nevus | 4.2% | 1/24 |
| Long eyelashes | 4.2% | 1/24 |
| Strabismus | 4.2% | 1/24 |
| Abnormality of the nose | 95.8% | 23/24 |
| Broad nasal tip | 75.0% | 18/24 |
| Anteverted nares | 54.2% | 13/24 |
| Depressed nasal bridge | 45.8% | 11/24 |
| Short nasal bridge | 20.8% | 5/24 |
| Narrow naris | 8.3% | 2/24 |
| Low hanging columella | 4.2% | 1/24 |
| Midface retrusion | 4.2% | 1/24 |
| Short nose | 4.2% | 1/24 |
| Abnormality of the mouth | 95.8% | 23/24 |
| Absent cupid's bow | 66.7% | 16/24 |
| Hyperplasia of the maxilla | 66.7% | 16/24 |
| Widely spaced teeth | 66.7% | 16/24 |
| Abnormality of the gingiva | 45.8% | 11/24 |
| Wide mouth | 41.7% | 10/24 |
| Thick vermilion border | 37.5% | 9/24 |
| Micrognathia | 20.8% | 5/24 |
| Persistence of primary teeth | 20.8% | 5/24 |
| Thin upper lip vermilion | 12.5% | 3/24 |
| Cleft soft palate | 8.3% | 2/24 |
| Delayed eruption of primary teeth | 8.3% | 2/24 |
| Open mouth | 8.3% | 2/24 |
| Abnormality of the tongue | 4.2% | 1/24 |
| Agenesis of lateral incisor | 4.2% | 1/24 |
| Broad secondary alveolar ridge | 4.2% | 1/24 |
| Diastema | 4.2% | 1/24 |
| Fibrous syngnathia | 4.2% | 1/24 |
| Incisor macrodontia | 4.2% | 1/24 |
| Mandibular prognathia | 4.2% | 1/24 |
| Pierre-Robin sequence | 4.2% | 1/24 |
| Tented upper lip vermilion | 4.2% | 1/24 |
| Thick lower lip vermilion | 4.2% | 1/24 |
| Widely-spaced maxillary central incisors | 4.2% | 1/24 |
| Visual and hearing impairments | ||
| Abnormal hearing | 13.0% | 3/23 |
| Blocked Eustachian tube | 4.3% | 1/23 |
| Mild hearing impairment | 4.3% | 1/23 |
| Mild conductive hearing impairment | 4.3% | 1/23 |
| Abnormal vision | 56.5% | 13/23 |
| Strabismus | 30.4% | 7/23 |
| Hypermetropia | 26.1% | 6/23 |
| Amblyopia | 8.7% | 2/23 |
| Myopia | 8.7% | 2/23 |
| Abnormality of vision | 4.3% | 1/23 |
| Anisometropia | 4.3% | 1/23 |
| Astigmatism | 4.3% | 1/23 |
| Exotropia | 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 |
| Diarrhea | 4.3% | 1/23 |
| Gastrostomy tube feeding in infancy | 4.3% | 1/23 |
| Intermittent diarrhea | 4.3% | 1/23 |
| Urogenital | ||
| Abnormality of the urogenital system | 15.0% | 3/20 |
| Unilateral cryptorchidism | 10.0% | 2/20 |
| Cryptorchidism | 5.0% | 1/20 |
| Inguinal hernia | 5.0% | 1/20 |
| Skeleton | ||
| Skeletal abnormalities | 76.2% | 16/21 |
| Clinodactyly of the 5th finger | 19.0% | 4/21 |
| Pectus carinatum | 9.5% | 2/21 |
| Pes cavus | 9.5% | 2/21 |
| Pes planus | 9.5% | 2/21 |
| Short foot | 9.5% | 2/21 |
| Short stature | 9.5% | 2/21 |
| Abnormality of the 2nd toe | 4.8% | 1/21 |
| Congenital hip dislocation | 4.8% | 1/21 |
| Genu valgum | 4.8% | 1/21 |
| Hip dysplasia | 4.8% | 1/21 |
| Joint stiffness | 4.8% | 1/21 |
| Knee flexion contracture | 4.8% | 1/21 |
| Limited hip extension | 4.8% | 1/21 |
| Limited knee extension | 4.8% | 1/21 |
| Long fingers | 4.8% | 1/21 |
| Metatarsus adductus | 4.8% | 1/21 |
| Osteopathia striata | 4.8% | 1/21 |
| Pectus excavatum | 4.8% | 1/21 |
| Proportionate shortening of all digits | 4.8% | 1/21 |
| Proximal placement of thumb | 4.8% | 1/21 |
| Sacral dimple | 4.8% | 1/21 |
| Sandal gap | 4.8% | 1/21 |
| Scoliosis | 4.8% | 1/21 |
| Short 5th finger | 4.8% | 1/21 |
| Small hand | 4.8% | 1/21 |
| Tapering pointed ends of distal finger phalanges | 4.8% | 1/21 |
| Thoracic kyphosis | 4.8% | 1/21 |
| Torticollis | 4.8% | 1/21 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 52.2% | 12/23 |
| Sparse lateral eyebrow | 26.1% | 6/23 |
| Abnormality of the eyebrow | 17.4% | 4/23 |
| Eczema | 8.7% | 2/23 |
| Inverted nipples | 8.7% | 2/23 |
| Abnormality of the palmar creases | 4.3% | 1/23 |
| Concave nail | 4.3% | 1/23 |
| Congenital giant melanocytic nevus | 4.3% | 1/23 |
| Cutis marmorata | 4.3% | 1/23 |
| Hyperconvex nail | 4.3% | 1/23 |
| Localized hirsutism | 4.3% | 1/23 |
| Reduced subcutaneous adipose tissue | 4.3% | 1/23 |
| Thin nail | 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 |
| Allergy | 5.3% | 1/19 |
| Chronic otitis media | 5.3% | 1/19 |
| Recurrent sinusitis | 5.3% | 1/19 |
| Recurrent infections | 5.3% | 1/19 |