ADNP
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 53.1% | 52/98 |
| Female | 46.9% | 46/98 |
| Indifferent | 0% | 0/98 |
| Unknown | 0% | 0/98 |
| General | ||
| Birth Length abnormalities | 4.1% | 4/97 |
| < P3 : Birth length less than 3rd percentile | 4.1% | 4/97 |
| Birth Weight abnormalities | 10.3% | 10/97 |
| > P98 : Large for gestational age | 3.1% | 3/97 |
| < P3 : Small for gestational age | 7.2% | 7/97 |
| Birth Head circumference abnormalities | 4.1% | 4/97 |
| < P3 : Congenital microcephaly | 3.1% | 3/97 |
| > P98 : Macrocephaly at birth | 1.0% | 1/97 |
| Current Height abnormalities | 21.9% | 21/96 |
| < P3 : Short stature | 20.8% | 20/96 |
| > P98 : Tall stature | 1.0% | 1/96 |
| Current Weight abnormalities | 13.5% | 13/96 |
| > P98 : Increased body weight | 8.3% | 8/96 |
| < P3 : Decreased body weight | 5.2% | 5/96 |
| Current Head circumference abnormalities | 12.6% | 12/95 |
| < P3 : Microcephaly | 12.6% | 12/95 |
| Neurology | ||
| Neurological abnormalities | 88.0% | 66/75 |
| Generalized hypotonia | 62.7% | 47/75 |
| Pain insensitivity | 17.3% | 13/75 |
| Seizures | 13.3% | 10/75 |
| Nystagmus | 6.7% | 5/75 |
| Muscular hypotonia | 4.0% | 3/75 |
| Abnormality of the optic nerve | 2.7% | 2/75 |
| EEG with focal epileptiform discharges | 2.7% | 2/75 |
| Global developmental delay | 2.7% | 2/75 |
| Spasticity | 2.7% | 2/75 |
| Abnormality of the extraocular muscles | 1.3% | 1/75 |
| Central hypotonia | 1.3% | 1/75 |
| Delayed speech and language development | 1.3% | 1/75 |
| Drooling | 1.3% | 1/75 |
| EEG abnormality | 1.3% | 1/75 |
| EEG with burst suppression | 1.3% | 1/75 |
| Facial palsy | 1.3% | 1/75 |
| Generalized seizures | 1.3% | 1/75 |
| Hallucinations | 1.3% | 1/75 |
| Hypertonia | 1.3% | 1/75 |
| Multifocal epileptiform discharges | 1.3% | 1/75 |
| Paroxysmal bursts of laughter | 1.3% | 1/75 |
| Poor eye contact | 1.3% | 1/75 |
| Stereotypic behavior | 1.3% | 1/75 |
| Stereotypical hand wringing | 1.3% | 1/75 |
| Upbeat nystagmus | 1.3% | 1/75 |
| Vertical nystagmus | 1.3% | 1/75 |
| Behavioral problems | 91.7% | 77/84 |
| Autism | 59.5% | 50/84 |
| Global developmental delay | 17.9% | 15/84 |
| Attention deficit hyperactivity disorder | 14.3% | 12/84 |
| Behavioral abnormality | 11.9% | 10/84 |
| Stereotypic behavior | 11.9% | 10/84 |
| Aggressive behavior | 9.5% | 8/84 |
| Recurrent hand flapping | 8.3% | 7/84 |
| Abnormal emotion/affect behavior | 7.1% | 6/84 |
| Anxiety | 7.1% | 6/84 |
| Autistic behavior | 7.1% | 6/84 |
| Obsessive-compulsive behavior | 7.1% | 6/84 |
| Short attention span | 6.0% | 5/84 |
| Stereotypical body rocking | 6.0% | 5/84 |
| Hyperactivity | 3.6% | 3/84 |
| Self-injurious behavior | 3.6% | 3/84 |
| Stereotypical hand wringing | 3.6% | 3/84 |
| Mood changes | 2.4% | 2/84 |
| Obsessive-compulsive trait | 2.4% | 2/84 |
| Self-mutilation | 2.4% | 2/84 |
| Abnormal aggressive, impulsive or violent behavior | 1.2% | 1/84 |
| Abnormal social behavior | 1.2% | 1/84 |
| Apraxia | 1.2% | 1/84 |
| Depression | 1.2% | 1/84 |
| Echolalia | 1.2% | 1/84 |
| Hair-pulling | 1.2% | 1/84 |
| Impaired ability to form peer relationships | 1.2% | 1/84 |
| Impaired social interactions | 1.2% | 1/84 |
| Inflexible adherence to routines or rituals | 1.2% | 1/84 |
| Low frustration tolerance | 1.2% | 1/84 |
| Mood swings | 1.2% | 1/84 |
| Pain insensitivity | 1.2% | 1/84 |
| Poor eye contact | 1.2% | 1/84 |
| Sleep disturbance | 1.2% | 1/84 |
| Violent behavior | 1.2% | 1/84 |
| Brain abnormality | 61.8% | 47/76 |
| Abnormality of the cerebral ventricles | 10.5% | 8/76 |
| Dilation of lateral ventricles | 10.5% | 8/76 |
| Hypoplasia of the corpus callosum | 9.2% | 7/76 |
| Abnormality of the corpus callosum | 6.6% | 5/76 |
| Cerebral atrophy | 6.6% | 5/76 |
| Choroid plexus cyst | 5.3% | 4/76 |
| Abnormality of the cerebral white matter | 3.9% | 3/76 |
| Abnormality of the periventricular white matter | 3.9% | 3/76 |
| Cortical dysplasia | 3.9% | 3/76 |
| Delayed myelination | 3.9% | 3/76 |
| Abnormality of the pituitary gland | 2.6% | 2/76 |
| Abnormality of the cerebrospinal fluid | 2.6% | 2/76 |
| Abnormality of the cerebral cortex | 2.6% | 2/76 |
| Abnormality of lateral ventricle | 2.6% | 2/76 |
| Arachnoid cyst | 2.6% | 2/76 |
| Cortical gyral simplification | 2.6% | 2/76 |
| Dilated third ventricle | 2.6% | 2/76 |
| Enlarged cisterna magna | 2.6% | 2/76 |
| Focal white matter lesions | 2.6% | 2/76 |
| Ventriculomegaly | 2.6% | 2/76 |
| Abnormality of the spinal cord | 1.3% | 1/76 |
| Abnormal cortical gyration | 1.3% | 1/76 |
| Abnormality of the calvaria | 1.3% | 1/76 |
| Abnormality of the cerebrum | 1.3% | 1/76 |
| Abnormality of the subarachnoid space | 1.3% | 1/76 |
| Aplasia/Hypoplasia of the cerebral white matter | 1.3% | 1/76 |
| Aplasia/Hypoplasia of the optic nerve | 1.3% | 1/76 |
| Autism | 1.3% | 1/76 |
| Brain atrophy | 1.3% | 1/76 |
| Cerebral hypoplasia | 1.3% | 1/76 |
| Cerebral ischemia | 1.3% | 1/76 |
| Delayed CNS myelination | 1.3% | 1/76 |
| Encephalopathy | 1.3% | 1/76 |
| Hydrocephalus | 1.3% | 1/76 |
| Hypoplasia of olfactory tract | 1.3% | 1/76 |
| Hypoplasia of the frontal lobes | 1.3% | 1/76 |
| Limbic malformations | 1.3% | 1/76 |
| Multifocal cerebral white matter abnormalities | 1.3% | 1/76 |
| Perivascular spaces | 1.3% | 1/76 |
| Periventricular leukomalacia | 1.3% | 1/76 |
| Pineal cyst | 1.3% | 1/76 |
| Polymicrogyria | 1.3% | 1/76 |
| Punctate periventricular T2 hyperintense foci | 1.3% | 1/76 |
| Small pituitary gland | 1.3% | 1/76 |
| Subdural hemorrhage | 1.3% | 1/76 |
| Widened subarachnoid space | 1.3% | 1/76 |
| Facial abnormalities | ||
| Abnormality of the ear | 53.7% | 36/67 |
| External ear malformation | 16.4% | 11/67 |
| Low-set ears | 11.9% | 8/67 |
| Small earlobe | 9.0% | 6/67 |
| Uplifted earlobe | 6.0% | 4/67 |
| Abnormality of the outer ear | 4.5% | 3/67 |
| Overfolded helix | 3.0% | 2/67 |
| Overfolding of the superior helices | 3.0% | 2/67 |
| Posteriorly rotated ears | 3.0% | 2/67 |
| Thickened helices | 3.0% | 2/67 |
| Abnormality of earlobe | 1.5% | 1/67 |
| Auricular tag | 1.5% | 1/67 |
| Lop ear | 1.5% | 1/67 |
| Low-set, posteriorly rotated ears | 1.5% | 1/67 |
| Microtia | 1.5% | 1/67 |
| Narrow internal auditory canal | 1.5% | 1/67 |
| Preauricular pit | 1.5% | 1/67 |
| Squared superior portion of helix | 1.5% | 1/67 |
| Abnormality of the eye | 89.5% | 77/86 |
| Downslanted palpebral fissures | 37.2% | 32/86 |
| Hypertelorism | 20.9% | 18/86 |
| Strabismus | 16.3% | 14/86 |
| Eversion of lateral third of lower eyelids | 11.6% | 10/86 |
| Ptosis | 10.5% | 9/86 |
| Thick eyebrow | 10.5% | 9/86 |
| Short palpebral fissure | 9.3% | 8/86 |
| Upslanted palpebral fissure | 7.0% | 6/86 |
| Bilateral ptosis | 4.7% | 4/86 |
| Prominent eyelashes | 4.7% | 4/86 |
| Small palpebral fissure | 4.7% | 4/86 |
| Abnormality of the periorbital region | 3.5% | 3/86 |
| Abnormality of the eyelid | 2.3% | 2/86 |
| Lacrimal duct stenosis | 2.3% | 2/86 |
| Medial flaring of the eyebrow | 2.3% | 2/86 |
| Sparse eyebrow | 2.3% | 2/86 |
| Abnormality of the lacrimal duct | 1.2% | 1/86 |
| Astigmatism | 1.2% | 1/86 |
| Blepharophimosis | 1.2% | 1/86 |
| Coloboma | 1.2% | 1/86 |
| Ectropion of lower eyelids | 1.2% | 1/86 |
| Epicanthus | 1.2% | 1/86 |
| High-grade hypermetropia | 1.2% | 1/86 |
| Hypotelorism | 1.2% | 1/86 |
| Iris coloboma | 1.2% | 1/86 |
| Long palpebral fissure | 1.2% | 1/86 |
| Long eyelashes | 1.2% | 1/86 |
| Telecanthus | 1.2% | 1/86 |
| Abnormality of the nose | 89.8% | 79/88 |
| Wide nasal bridge | 43.2% | 38/88 |
| Short nose | 33.0% | 29/88 |
| Broad nasal tip | 28.4% | 25/88 |
| Anteverted nares | 25.0% | 22/88 |
| Depressed nasal bridge | 15.9% | 14/88 |
| Wide nasal base | 13.6% | 12/88 |
| Abnormality of the nasal bridge | 6.8% | 6/88 |
| Abnormality of the nasal tip | 5.7% | 5/88 |
| Narrow nasal bridge | 4.5% | 4/88 |
| Thick nasal alae | 4.5% | 4/88 |
| Low hanging columella | 3.4% | 3/88 |
| Anteverted ears | 1.1% | 1/88 |
| Choanal atresia | 1.1% | 1/88 |
| Depressed nasal tip | 1.1% | 1/88 |
| Long philtrum | 1.1% | 1/88 |
| Narrow nasal tip | 1.1% | 1/88 |
| Smooth philtrum | 1.1% | 1/88 |
| Underdeveloped nasal alae | 1.1% | 1/88 |
| Abnormality of the mouth | 90.5% | 76/84 |
| Thin upper lip vermilion | 57.1% | 48/84 |
| Long philtrum | 39.3% | 33/84 |
| Everted lower lip vermilion | 25.0% | 21/84 |
| Thick lower lip vermilion | 21.4% | 18/84 |
| Widely spaced teeth | 17.9% | 15/84 |
| Short philtrum | 10.7% | 9/84 |
| Abnormality of upper lip vermillion | 8.3% | 7/84 |
| Broad philtrum | 8.3% | 7/84 |
| Macrodontia | 7.1% | 6/84 |
| Wide mouth | 7.1% | 6/84 |
| Abnormality of lower lip | 6.0% | 5/84 |
| Abnormality of mouth size | 6.0% | 5/84 |
| Diastema | 6.0% | 5/84 |
| Smooth philtrum | 6.0% | 5/84 |
| Abnormality of dental enamel | 3.6% | 3/84 |
| Abnormality of the teeth | 2.4% | 2/84 |
| Deep philtrum | 2.4% | 2/84 |
| High palate | 2.4% | 2/84 |
| Narrow palate | 2.4% | 2/84 |
| Abnormality of the philtrum | 1.2% | 1/84 |
| Ankyloglossia | 1.2% | 1/84 |
| Asymmetric crying face | 1.2% | 1/84 |
| Carious teeth | 1.2% | 1/84 |
| Cleft palate | 1.2% | 1/84 |
| Dental malocclusion | 1.2% | 1/84 |
| Downturned corners of mouth | 1.2% | 1/84 |
| Mandibular prognathia | 1.2% | 1/84 |
| Narrow mouth | 1.2% | 1/84 |
| Thick upper lip vermilion | 1.2% | 1/84 |
| Thin lower lip vermilion | 1.2% | 1/84 |
| Widely spaced primary teeth | 1.2% | 1/84 |
| Yellow-brown discoloration of the teeth | 1.2% | 1/84 |
| Visual and hearing impairments | ||
| Abnormal hearing | 15.1% | 11/73 |
| Hearing impairment | 8.2% | 6/73 |
| Bilateral sensorineural hearing impairment | 1.4% | 1/73 |
| Cholesteatoma | 1.4% | 1/73 |
| Chronic otitis media | 1.4% | 1/73 |
| Congenital sensorineural hearing impairment | 1.4% | 1/73 |
| Recurrent infections of the middle ear | 1.4% | 1/73 |
| Recurrent otitis media | 1.4% | 1/73 |
| Sensorineural hearing impairment | 1.4% | 1/73 |
| Abnormal vision | 74.1% | 60/81 |
| Hypermetropia | 33.3% | 27/81 |
| Strabismus | 24.7% | 20/81 |
| Astigmatism | 9.9% | 8/81 |
| Cortical visual impairment | 9.9% | 8/81 |
| Congenital visual impairment | 7.4% | 6/81 |
| Esotropia | 3.7% | 3/81 |
| Myopia | 3.7% | 3/81 |
| Ptosis | 3.7% | 3/81 |
| Exotropia | 2.5% | 2/81 |
| Hypertelorism | 2.5% | 2/81 |
| Optic nerve coloboma | 2.5% | 2/81 |
| Unilateral strabismus | 2.5% | 2/81 |
| Abnormality of the optic disc | 1.2% | 1/81 |
| Abnormal eye morphology | 1.2% | 1/81 |
| Amblyopia | 1.2% | 1/81 |
| Anisometropia | 1.2% | 1/81 |
| Cataract | 1.2% | 1/81 |
| Congenital cataract | 1.2% | 1/81 |
| Corneal opacity | 1.2% | 1/81 |
| High-grade hypermetropia | 1.2% | 1/81 |
| Hyperopic astigmatism | 1.2% | 1/81 |
| Impaired convergence | 1.2% | 1/81 |
| Iris coloboma | 1.2% | 1/81 |
| Nystagmus | 1.2% | 1/81 |
| Retinal detachment | 1.2% | 1/81 |
| Severe Myopia | 1.2% | 1/81 |
| Visual impairment | 1.2% | 1/81 |
| Heart | ||
| Abnormality of the heart | 42.2% | 35/83 |
| Atria septal defect | 8.4% | 7/83 |
| Patent foramen ovale | 7.2% | 6/83 |
| Patent ductus arteriosus | 6.0% | 5/83 |
| Abnormality of the atrial septum | 3.6% | 3/83 |
| Mitral valve prolapse | 3.6% | 3/83 |
| Ventricular septal defect | 3.6% | 3/83 |
| Abnormality of the ventricular septum | 2.4% | 2/83 |
| Mitral regurgitation | 2.4% | 2/83 |
| Abnormality of the left ventricle | 1.2% | 1/83 |
| Abnormality of the pulmonary valve | 1.2% | 1/83 |
| Abnormality of the aortic valve | 1.2% | 1/83 |
| Abnormality of the aorta | 1.2% | 1/83 |
| Abnormality of cardiac ventricle | 1.2% | 1/83 |
| Aortic valve stenosis | 1.2% | 1/83 |
| Atrial septal aneurysm | 1.2% | 1/83 |
| Ductus arteriosus aneurysm | 1.2% | 1/83 |
| Dysplastic aortic valve | 1.2% | 1/83 |
| Noncompaction cardiomyopathy | 1.2% | 1/83 |
| Persistent patent ductus venosus | 1.2% | 1/83 |
| Primum atrial septal defect | 1.2% | 1/83 |
| Pulmonic stenosis | 1.2% | 1/83 |
| Right aortic arch | 1.2% | 1/83 |
| Secundum atrial septal defect | 1.2% | 1/83 |
| Tapered finger | 1.2% | 1/83 |
| Tetralogy of Fallot | 1.2% | 1/83 |
| Tricuspid regurgitation | 1.2% | 1/83 |
| Vascular ring | 1.2% | 1/83 |
| Pulmonary | ||
| Abnormality of the lungs | 27.3% | 3/11 |
| Aspirin-induced asthma | 9.1% | 1/11 |
| Functional respiratory abnormality | 9.1% | 1/11 |
| Recurrent bronchiolitis | 9.1% | 1/11 |
| Recurrent respiratory infections | 9.1% | 1/11 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 74.4% | 61/82 |
| Gastroesophageal reflux | 45.1% | 37/82 |
| Constipation | 37.8% | 31/82 |
| Feeding difficulties | 32.9% | 27/82 |
| Vomiting | 18.3% | 15/82 |
| Obesity | 13.4% | 11/82 |
| Dysphagia | 7.3% | 6/82 |
| Gastrostomy tube feeding in infancy | 6.1% | 5/82 |
| Aspiration | 4.9% | 4/82 |
| Feeding difficulties in infancy | 3.7% | 3/82 |
| Polyphagia | 3.7% | 3/82 |
| Poor suck | 3.7% | 3/82 |
| Anal atresia | 2.4% | 2/82 |
| Diarrhea | 2.4% | 2/82 |
| Oral-pharyngeal dysphagia | 2.4% | 2/82 |
| Abnormality of the stomach | 1.2% | 1/82 |
| Abnormality of the duodenum | 1.2% | 1/82 |
| Abnormality of the tongue muscle | 1.2% | 1/82 |
| Aganglionic megacolon | 1.2% | 1/82 |
| Chronic constipation | 1.2% | 1/82 |
| Encopresis | 1.2% | 1/82 |
| Inguinal hernia | 1.2% | 1/82 |
| Intermittent diarrhea | 1.2% | 1/82 |
| Intestinal malrotation | 1.2% | 1/82 |
| Lactose intolerance | 1.2% | 1/82 |
| Oral motor hypotonia | 1.2% | 1/82 |
| Slow progression | 1.2% | 1/82 |
| Umbilical hernia | 1.2% | 1/82 |
| Urogenital | ||
| Abnormality of the urogenital system | 32.8% | 21/64 |
| Cryptorchidism | 7.8% | 5/64 |
| Bilateral cryptorchidism | 4.7% | 3/64 |
| Unilateral cryptorchidism | 4.7% | 3/64 |
| Vesicoureteral reflux | 4.7% | 3/64 |
| Hernia | 3.1% | 2/64 |
| Abnormal renal physiology | 1.6% | 1/64 |
| Abnormality of the breast | 1.6% | 1/64 |
| Abnormality of the ureter | 1.6% | 1/64 |
| Abnormality of the penis | 1.6% | 1/64 |
| Autonomic bladder dysfunction | 1.6% | 1/64 |
| Micropenis | 1.6% | 1/64 |
| Urinary incontinence | 1.6% | 1/64 |
| Skeleton | ||
| Skeletal abnormalities | 71.1% | 59/83 |
| Sandal gap | 19.3% | 16/83 |
| Broad finger | 13.3% | 11/83 |
| Scoliosis | 13.3% | 11/83 |
| Short toe | 10.8% | 9/83 |
| Joint hypermobility | 8.4% | 7/83 |
| Pectus excavatum | 8.4% | 7/83 |
| Pes planus | 8.4% | 7/83 |
| Long hallux | 7.2% | 6/83 |
| Clinodactyly of the 5th finger | 4.8% | 4/83 |
| Finger joint hypermobility | 4.8% | 4/83 |
| Hallux valgus | 4.8% | 4/83 |
| Increased laxity of fingers | 4.8% | 4/83 |
| Tapered finger | 3.6% | 3/83 |
| Abnormality of the hip joint | 2.4% | 2/83 |
| Brachydactyly syndrome | 2.4% | 2/83 |
| Broad hallux | 2.4% | 2/83 |
| Clinodactyly | 2.4% | 2/83 |
| Hand polydactyly | 2.4% | 2/83 |
| Plagiocephaly | 2.4% | 2/83 |
| Thoracic scoliosis | 2.4% | 2/83 |
| Toe clinodactyly | 2.4% | 2/83 |
| Abnormality of the 5th finger | 1.2% | 1/83 |
| Abnormality of the thumb | 1.2% | 1/83 |
| Abnormality of the distal phalanx of finger | 1.2% | 1/83 |
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger | 1.2% | 1/83 |
| Asymmetric growth | 1.2% | 1/83 |
| Asymmetric short stature | 1.2% | 1/83 |
| Brachycephaly | 1.2% | 1/83 |
| Broad toe | 1.2% | 1/83 |
| Broad thumb | 1.2% | 1/83 |
| Broad distal phalanx of finger | 1.2% | 1/83 |
| Clinodactyly of the 5th toe | 1.2% | 1/83 |
| Enlarged epiphyses of the distal phalanges of the hand | 1.2% | 1/83 |
| Enlarged interphalangeal joints | 1.2% | 1/83 |
| Finger clinodactyly | 1.2% | 1/83 |
| Genu valgum | 1.2% | 1/83 |
| Hammertoe | 1.2% | 1/83 |
| Hip dysplasia | 1.2% | 1/83 |
| Joint contractures involving the joints of the feet | 1.2% | 1/83 |
| Lambdoidal craniosynostosis | 1.2% | 1/83 |
| Lower limb asymmetry | 1.2% | 1/83 |
| Marked delay in bone age | 1.2% | 1/83 |
| Patellar dislocation | 1.2% | 1/83 |
| Pectus carinatum | 1.2% | 1/83 |
| Pectus excavatum of inferior sternum | 1.2% | 1/83 |
| Posterior plagiocephaly | 1.2% | 1/83 |
| Prominent interphalangeal joints | 1.2% | 1/83 |
| Radial deviation of finger | 1.2% | 1/83 |
| Short lower limbs | 1.2% | 1/83 |
| Short neck | 1.2% | 1/83 |
| Short metatarsal | 1.2% | 1/83 |
| Short foot | 1.2% | 1/83 |
| Slender toe | 1.2% | 1/83 |
| Small hand | 1.2% | 1/83 |
| Split foot | 1.2% | 1/83 |
| Superior pectus carinatum | 1.2% | 1/83 |
| Thoracic kyphoscoliosis | 1.2% | 1/83 |
| Type A brachydactyly | 1.2% | 1/83 |
| Wormian bones | 1.2% | 1/83 |
| 2-3 toe syndactyly | 1.2% | 1/83 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 62.7% | 47/75 |
| High anterior hairline | 16.0% | 12/75 |
| Eczema | 14.7% | 11/75 |
| Prominent fingertip pads | 6.7% | 5/75 |
| Small nail | 6.7% | 5/75 |
| Hirsutism | 5.3% | 4/75 |
| Abnormality of the nail | 4.0% | 3/75 |
| Dry skin | 4.0% | 3/75 |
| Single transverse palmar crease | 4.0% | 3/75 |
| Abnormality of the fingernails | 2.7% | 2/75 |
| Advanced eruption of teeth | 2.7% | 2/75 |
| Fine hair | 2.7% | 2/75 |
| Prominent eyelashes | 2.7% | 2/75 |
| Sparse hair | 2.7% | 2/75 |
| Thick hair | 2.7% | 2/75 |
| Thin nail | 2.7% | 2/75 |
| Abnormal position of hair whorl | 1.3% | 1/75 |
| Abnormality of dental eruption | 1.3% | 1/75 |
| Abnormality of dental enamel | 1.3% | 1/75 |
| Abnormality of hair texture | 1.3% | 1/75 |
| Abnormality of the nipple | 1.3% | 1/75 |
| Absent toenail | 1.3% | 1/75 |
| Cafe-au-lait spot | 1.3% | 1/75 |
| Concave nail | 1.3% | 1/75 |
| Cutis marmorata | 1.3% | 1/75 |
| Deep-set nails | 1.3% | 1/75 |
| Delayed eruption of teeth | 1.3% | 1/75 |
| Hypoplastic fifth fingernail | 1.3% | 1/75 |
| Ichthyosis | 1.3% | 1/75 |
| Inverted nipples | 1.3% | 1/75 |
| Localized skin lesion | 1.3% | 1/75 |
| Nevus | 1.3% | 1/75 |
| Numerous nevi | 1.3% | 1/75 |
| Oligodontia | 1.3% | 1/75 |
| Premature eruption of permanent teeth | 1.3% | 1/75 |
| Short nail | 1.3% | 1/75 |
| Thick nail | 1.3% | 1/75 |
| Vascular skin abnormality | 1.3% | 1/75 |
| Vitiligo | 1.3% | 1/75 |
| 2-3 toe syndactyly | 1.3% | 1/75 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 23.3% | 14/60 |
| Hypothyroidism | 11.7% | 7/60 |
| Growth hormone deficiency | 10.0% | 6/60 |
| Abnormality of the menstrual cycle | 1.7% | 1/60 |
| Hirsutism | 1.7% | 1/60 |
| Precocious puberty in males | 1.7% | 1/60 |
| Abnormality of the metabolic system | 7.3% | 3/41 |
| Obesity | 4.9% | 2/41 |
| Abnormality of body weight | 2.4% | 1/41 |
| Abnormality of the immune system | 36.3% | 29/80 |
| Recurrent infections | 22.5% | 18/80 |
| Recurrent upper respiratory tract infections | 3.8% | 3/80 |
| Chronic otitis media | 2.5% | 2/80 |
| Recurrent respiratory infections | 2.5% | 2/80 |
| Recurrent otitis media | 2.5% | 2/80 |
| Fever | 1.3% | 1/80 |
| Recurrent urinary tract infections | 1.3% | 1/80 |