ADNP
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 54.9% | 45/82 |
| Female | 45.1% | 37/82 |
| Indifferent | 0% | 0/82 |
| Unknown | 0% | 0/82 |
| General | ||
| Birth Length abnormalities | 3.7% | 3/81 |
| < P3 : Birth length less than 3rd percentile | 3.7% | 3/81 |
| Birth Weight abnormalities | 12.3% | 10/81 |
| > P98 : Large for gestational age | 3.7% | 3/81 |
| < P3 : Small for gestational age | 8.6% | 7/81 |
| Birth Head circumference abnormalities | 4.9% | 4/81 |
| < P3 : Congenital microcephaly | 3.7% | 3/81 |
| > P98 : Macrocephaly at birth | 1.2% | 1/81 |
| Current Height abnormalities | 25.0% | 20/80 |
| < P3 : Short stature | 23.8% | 19/80 |
| > P98 : Tall stature | 1.3% | 1/80 |
| Current Weight abnormalities | 15.0% | 12/80 |
| > P98 : Increased body weight | 8.8% | 7/80 |
| < P3 : Decreased body weight | 6.3% | 5/80 |
| Current Head circumference abnormalities | 13.9% | 11/79 |
| < P3 : Microcephaly | 13.9% | 11/79 |
| Neurology | ||
| Neurological abnormalities | 88.9% | 64/72 |
| Generalized hypotonia | 65.3% | 47/72 |
| Pain insensitivity | 18.1% | 13/72 |
| Seizures | 13.9% | 10/72 |
| Nystagmus | 6.9% | 5/72 |
| Muscular hypotonia | 4.2% | 3/72 |
| EEG with focal epileptiform discharges | 2.8% | 2/72 |
| Spasticity | 2.8% | 2/72 |
| Abnormality of the optic nerve | 1.4% | 1/72 |
| Abnormality of the extraocular muscles | 1.4% | 1/72 |
| Central hypotonia | 1.4% | 1/72 |
| Delayed speech and language development | 1.4% | 1/72 |
| Drooling | 1.4% | 1/72 |
| EEG abnormality | 1.4% | 1/72 |
| EEG with burst suppression | 1.4% | 1/72 |
| Facial palsy | 1.4% | 1/72 |
| Generalized seizures | 1.4% | 1/72 |
| Global developmental delay | 1.4% | 1/72 |
| Hypertonia | 1.4% | 1/72 |
| Lower limb hypertonia | 1.4% | 1/72 |
| Multifocal epileptiform discharges | 1.4% | 1/72 |
| Paroxysmal bursts of laughter | 1.4% | 1/72 |
| Poor eye contact | 1.4% | 1/72 |
| Stereotypic behavior | 1.4% | 1/72 |
| Stereotypical hand wringing | 1.4% | 1/72 |
| Upbeat nystagmus | 1.4% | 1/72 |
| Vertical nystagmus | 1.4% | 1/72 |
| Behavioral problems | 90.0% | 63/70 |
| Autism | 60.0% | 42/70 |
| Attention deficit hyperactivity disorder | 17.1% | 12/70 |
| Aggressive behavior | 11.4% | 8/70 |
| Recurrent hand flapping | 10.0% | 7/70 |
| Abnormal emotion/affect behavior | 8.6% | 6/70 |
| Anxiety | 8.6% | 6/70 |
| Autistic behavior | 8.6% | 6/70 |
| Obsessive-compulsive behavior | 8.6% | 6/70 |
| Short attention span | 7.1% | 5/70 |
| Stereotypical body rocking | 7.1% | 5/70 |
| Stereotypic behavior | 5.7% | 4/70 |
| Hyperactivity | 4.3% | 3/70 |
| Self-injurious behavior | 4.3% | 3/70 |
| Stereotypical hand wringing | 4.3% | 3/70 |
| Mood changes | 2.9% | 2/70 |
| Obsessive-compulsive trait | 2.9% | 2/70 |
| Self-mutilation | 2.9% | 2/70 |
| Abnormal social behavior | 1.4% | 1/70 |
| Abnormal aggressive, impulsive or violent behavior | 1.4% | 1/70 |
| Apraxia | 1.4% | 1/70 |
| Behavioral abnormality | 1.4% | 1/70 |
| Depression | 1.4% | 1/70 |
| Echolalia | 1.4% | 1/70 |
| Hair-pulling | 1.4% | 1/70 |
| Impaired social interactions | 1.4% | 1/70 |
| Impaired ability to form peer relationships | 1.4% | 1/70 |
| Inflexible adherence to routines or rituals | 1.4% | 1/70 |
| Low frustration tolerance | 1.4% | 1/70 |
| Mood swings | 1.4% | 1/70 |
| Pain insensitivity | 1.4% | 1/70 |
| Poor eye contact | 1.4% | 1/70 |
| Sleep disturbance | 1.4% | 1/70 |
| Violent behavior | 1.4% | 1/70 |
| Brain abnormality | 58.1% | 36/62 |
| Abnormality of the cerebral ventricles | 12.9% | 8/62 |
| Hypoplasia of the corpus callosum | 9.7% | 6/62 |
| Cerebral atrophy | 8.1% | 5/62 |
| Dilation of lateral ventricles | 8.1% | 5/62 |
| Abnormality of the periventricular white matter | 4.8% | 3/62 |
| Cortical dysplasia | 4.8% | 3/62 |
| Delayed myelination | 4.8% | 3/62 |
| Abnormality of the cerebral cortex | 3.2% | 2/62 |
| Abnormality of the corpus callosum | 3.2% | 2/62 |
| Abnormality of the cerebral white matter | 3.2% | 2/62 |
| Choroid plexus cyst | 3.2% | 2/62 |
| Cortical gyral simplification | 3.2% | 2/62 |
| Dilated third ventricle | 3.2% | 2/62 |
| Enlarged cisterna magna | 3.2% | 2/62 |
| Focal white matter lesions | 3.2% | 2/62 |
| Abnormality of lateral ventricle | 1.6% | 1/62 |
| Abnormality of the spinal cord | 1.6% | 1/62 |
| Aplasia/Hypoplasia of the optic nerve | 1.6% | 1/62 |
| Aplasia/Hypoplasia of the cerebral white matter | 1.6% | 1/62 |
| Arachnoid cyst | 1.6% | 1/62 |
| Autism | 1.6% | 1/62 |
| Brain atrophy | 1.6% | 1/62 |
| Cerebral hypoplasia | 1.6% | 1/62 |
| Cerebral ischemia | 1.6% | 1/62 |
| Encephalopathy | 1.6% | 1/62 |
| Hydrocephalus | 1.6% | 1/62 |
| Hypoplasia of olfactory tract | 1.6% | 1/62 |
| Hypoplasia of the frontal lobes | 1.6% | 1/62 |
| Limbic malformations | 1.6% | 1/62 |
| Multifocal cerebral white matter abnormalities | 1.6% | 1/62 |
| Periventricular leukomalacia | 1.6% | 1/62 |
| Pineal cyst | 1.6% | 1/62 |
| Punctate periventricular T2 hyperintense foci | 1.6% | 1/62 |
| Small pituitary gland | 1.6% | 1/62 |
| Subdural hemorrhage | 1.6% | 1/62 |
| Ventriculomegaly | 1.6% | 1/62 |
| Widened subarachnoid space | 1.6% | 1/62 |
| Facial abnormalities | ||
| Abnormality of the ear | 52.9% | 36/68 |
| External ear malformation | 16.2% | 11/68 |
| Low-set ears | 11.8% | 8/68 |
| Small earlobe | 8.8% | 6/68 |
| Uplifted earlobe | 5.9% | 4/68 |
| Abnormality of the outer ear | 4.4% | 3/68 |
| Overfolded helix | 2.9% | 2/68 |
| Overfolding of the superior helices | 2.9% | 2/68 |
| Posteriorly rotated ears | 2.9% | 2/68 |
| Thickened helices | 2.9% | 2/68 |
| Abnormality of earlobe | 1.5% | 1/68 |
| Auricular tag | 1.5% | 1/68 |
| Lop ear | 1.5% | 1/68 |
| Low-set, posteriorly rotated ears | 1.5% | 1/68 |
| Microtia | 1.5% | 1/68 |
| Narrow internal auditory canal | 1.5% | 1/68 |
| Preauricular pit | 1.5% | 1/68 |
| Squared superior portion of helix | 1.5% | 1/68 |
| Abnormality of the eye | 85.9% | 61/71 |
| Downslanted palpebral fissures | 25.4% | 18/71 |
| Hypertelorism | 23.9% | 17/71 |
| Strabismus | 19.7% | 14/71 |
| Eversion of lateral third of lower eyelids | 14.1% | 10/71 |
| Thick eyebrow | 12.7% | 9/71 |
| Ptosis | 11.3% | 8/71 |
| Short palpebral fissure | 11.3% | 8/71 |
| Upslanted palpebral fissure | 7.0% | 5/71 |
| Bilateral ptosis | 5.6% | 4/71 |
| Prominent eyelashes | 5.6% | 4/71 |
| Small palpebral fissure | 5.6% | 4/71 |
| Abnormality of the periorbital region | 4.2% | 3/71 |
| Lacrimal duct stenosis | 2.8% | 2/71 |
| Medial flaring of the eyebrow | 2.8% | 2/71 |
| Sparse eyebrow | 2.8% | 2/71 |
| Abnormality of the lacrimal duct | 1.4% | 1/71 |
| Abnormality of the eyelid | 1.4% | 1/71 |
| Astigmatism | 1.4% | 1/71 |
| Blepharophimosis | 1.4% | 1/71 |
| Coloboma | 1.4% | 1/71 |
| Ectropion of lower eyelids | 1.4% | 1/71 |
| Epicanthus | 1.4% | 1/71 |
| High-grade hypermetropia | 1.4% | 1/71 |
| Hypotelorism | 1.4% | 1/71 |
| Iris coloboma | 1.4% | 1/71 |
| Long eyelashes | 1.4% | 1/71 |
| Long palpebral fissure | 1.4% | 1/71 |
| Telecanthus | 1.4% | 1/71 |
| Abnormality of the nose | 86.3% | 63/73 |
| Wide nasal bridge | 45.2% | 33/73 |
| Short nose | 39.7% | 29/73 |
| Anteverted nares | 28.8% | 21/73 |
| Broad nasal tip | 17.8% | 13/73 |
| Wide nasal base | 16.4% | 12/73 |
| Depressed nasal bridge | 9.6% | 7/73 |
| Abnormality of the nasal bridge | 8.2% | 6/73 |
| Abnormality of the nasal tip | 6.8% | 5/73 |
| Narrow nasal bridge | 5.5% | 4/73 |
| Thick nasal alae | 5.5% | 4/73 |
| Anteverted ears | 1.4% | 1/73 |
| Choanal atresia | 1.4% | 1/73 |
| Long philtrum | 1.4% | 1/73 |
| Low hanging columella | 1.4% | 1/73 |
| Narrow nasal tip | 1.4% | 1/73 |
| Smooth philtrum | 1.4% | 1/73 |
| Underdeveloped nasal alae | 1.4% | 1/73 |
| Abnormality of the mouth | 87.1% | 61/70 |
| Thin upper lip vermilion | 52.9% | 37/70 |
| Long philtrum | 31.4% | 22/70 |
| Thick lower lip vermilion | 25.7% | 18/70 |
| Widely spaced teeth | 21.4% | 15/70 |
| Everted lower lip vermilion | 11.4% | 8/70 |
| Abnormality of upper lip vermillion | 10.0% | 7/70 |
| Broad philtrum | 10.0% | 7/70 |
| Wide mouth | 8.6% | 6/70 |
| Abnormality of lower lip | 7.1% | 5/70 |
| Abnormality of mouth size | 7.1% | 5/70 |
| Short philtrum | 5.7% | 4/70 |
| Abnormality of dental enamel | 4.3% | 3/70 |
| Deep philtrum | 2.9% | 2/70 |
| High palate | 2.9% | 2/70 |
| Narrow palate | 2.9% | 2/70 |
| Abnormality of the philtrum | 1.4% | 1/70 |
| Asymmetric crying face | 1.4% | 1/70 |
| Carious teeth | 1.4% | 1/70 |
| Cleft palate | 1.4% | 1/70 |
| Dental malocclusion | 1.4% | 1/70 |
| Downturned corners of mouth | 1.4% | 1/70 |
| Mandibular prognathia | 1.4% | 1/70 |
| Narrow mouth | 1.4% | 1/70 |
| Thick upper lip vermilion | 1.4% | 1/70 |
| Thin lower lip vermilion | 1.4% | 1/70 |
| Widely spaced primary teeth | 1.4% | 1/70 |
| Yellow-brown discoloration of the teeth | 1.4% | 1/70 |
| Visual and hearing impairments | ||
| Abnormal hearing | 13.6% | 9/66 |
| Hearing impairment | 6.1% | 4/66 |
| Bilateral sensorineural hearing impairment | 1.5% | 1/66 |
| Chronic otitis media | 1.5% | 1/66 |
| Congenital sensorineural hearing impairment | 1.5% | 1/66 |
| Recurrent infections of the middle ear | 1.5% | 1/66 |
| Sensorineural hearing impairment | 1.5% | 1/66 |
| Abnormal vision | 69.6% | 48/69 |
| Hypermetropia | 34.8% | 24/69 |
| Strabismus | 24.6% | 17/69 |
| Cortical visual impairment | 11.6% | 8/69 |
| Congenital visual impairment | 8.7% | 6/69 |
| Astigmatism | 7.2% | 5/69 |
| Esotropia | 4.3% | 3/69 |
| Myopia | 4.3% | 3/69 |
| Ptosis | 4.3% | 3/69 |
| Hypertelorism | 2.9% | 2/69 |
| Optic nerve coloboma | 2.9% | 2/69 |
| Amblyopia | 1.4% | 1/69 |
| Anisometropia | 1.4% | 1/69 |
| Cataract | 1.4% | 1/69 |
| Congenital cataract | 1.4% | 1/69 |
| Exotropia | 1.4% | 1/69 |
| High-grade hypermetropia | 1.4% | 1/69 |
| Hyperopic astigmatism | 1.4% | 1/69 |
| Iris coloboma | 1.4% | 1/69 |
| Nystagmus | 1.4% | 1/69 |
| Retinal detachment | 1.4% | 1/69 |
| Severe Myopia | 1.4% | 1/69 |
| Heart | ||
| Abnormality of the heart | 39.4% | 28/71 |
| Atria septal defect | 9.9% | 7/71 |
| Patent ductus arteriosus | 7.0% | 5/71 |
| Patent foramen ovale | 5.6% | 4/71 |
| Abnormality of the atrial septum | 4.2% | 3/71 |
| Mitral valve prolapse | 4.2% | 3/71 |
| Ventricular septal defect | 4.2% | 3/71 |
| Abnormality of the aortic valve | 1.4% | 1/71 |
| Abnormality of the ventricular septum | 1.4% | 1/71 |
| Abnormality of the aorta | 1.4% | 1/71 |
| Abnormality of the pulmonary valve | 1.4% | 1/71 |
| Atrial septal aneurysm | 1.4% | 1/71 |
| Ductus arteriosus aneurysm | 1.4% | 1/71 |
| Dysplastic aortic valve | 1.4% | 1/71 |
| Mitral regurgitation | 1.4% | 1/71 |
| Noncompaction cardiomyopathy | 1.4% | 1/71 |
| Primum atrial septal defect | 1.4% | 1/71 |
| Right aortic arch | 1.4% | 1/71 |
| Tapered finger | 1.4% | 1/71 |
| Tetralogy of Fallot | 1.4% | 1/71 |
| Tricuspid regurgitation | 1.4% | 1/71 |
| Vascular ring | 1.4% | 1/71 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 77.8% | 56/72 |
| Gastroesophageal reflux | 45.8% | 33/72 |
| Constipation | 43.1% | 31/72 |
| Feeding difficulties | 37.5% | 27/72 |
| Vomiting | 20.8% | 15/72 |
| Obesity | 15.3% | 11/72 |
| Dysphagia | 8.3% | 6/72 |
| Gastrostomy tube feeding in infancy | 6.9% | 5/72 |
| Aspiration | 5.6% | 4/72 |
| Feeding difficulties in infancy | 4.2% | 3/72 |
| Polyphagia | 4.2% | 3/72 |
| Poor suck | 4.2% | 3/72 |
| Anal atresia | 2.8% | 2/72 |
| Diarrhea | 2.8% | 2/72 |
| Oral-pharyngeal dysphagia | 2.8% | 2/72 |
| Abnormality of the tongue muscle | 1.4% | 1/72 |
| Chronic constipation | 1.4% | 1/72 |
| Encopresis | 1.4% | 1/72 |
| Inguinal hernia | 1.4% | 1/72 |
| Intermittent diarrhea | 1.4% | 1/72 |
| Intestinal malrotation | 1.4% | 1/72 |
| Lactose intolerance | 1.4% | 1/72 |
| Oral motor hypotonia | 1.4% | 1/72 |
| Slow progression | 1.4% | 1/72 |
| Umbilical hernia | 1.4% | 1/72 |
| Urogenital | ||
| Abnormality of the urogenital system | 36.4% | 20/55 |
| Cryptorchidism | 7.3% | 4/55 |
| Bilateral cryptorchidism | 5.5% | 3/55 |
| Unilateral cryptorchidism | 5.5% | 3/55 |
| Vesicoureteral reflux | 5.5% | 3/55 |
| Hernia | 3.6% | 2/55 |
| Abnormality of the ureter | 1.8% | 1/55 |
| Abnormality of the penis | 1.8% | 1/55 |
| Abnormal renal physiology | 1.8% | 1/55 |
| Abnormality of the breast | 1.8% | 1/55 |
| Autonomic bladder dysfunction | 1.8% | 1/55 |
| Micropenis | 1.8% | 1/55 |
| Urinary incontinence | 1.8% | 1/55 |
| Skeleton | ||
| Skeletal abnormalities | 63.2% | 43/68 |
| Scoliosis | 16.2% | 11/68 |
| Pectus excavatum | 10.3% | 7/68 |
| Sandal gap | 10.3% | 7/68 |
| Joint hypermobility | 8.8% | 6/68 |
| Long hallux | 8.8% | 6/68 |
| Finger joint hypermobility | 5.9% | 4/68 |
| Increased laxity of fingers | 5.9% | 4/68 |
| Pes planus | 4.4% | 3/68 |
| Brachydactyly syndrome | 2.9% | 2/68 |
| Clinodactyly of the 5th finger | 2.9% | 2/68 |
| Clinodactyly | 2.9% | 2/68 |
| Hand polydactyly | 2.9% | 2/68 |
| Plagiocephaly | 2.9% | 2/68 |
| Tapered finger | 2.9% | 2/68 |
| Abnormality of the distal phalanx of finger | 1.5% | 1/68 |
| Abnormality of the 5th finger | 1.5% | 1/68 |
| Abnormality of the thumb | 1.5% | 1/68 |
| Abnormality of the hip joint | 1.5% | 1/68 |
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger | 1.5% | 1/68 |
| Asymmetric growth | 1.5% | 1/68 |
| Asymmetric short stature | 1.5% | 1/68 |
| Broad distal phalanx of finger | 1.5% | 1/68 |
| Broad thumb | 1.5% | 1/68 |
| Enlarged interphalangeal joints | 1.5% | 1/68 |
| Enlarged epiphyses of the distal phalanges of the hand | 1.5% | 1/68 |
| Hallux valgus | 1.5% | 1/68 |
| Hip dysplasia | 1.5% | 1/68 |
| Joint contractures involving the joints of the feet | 1.5% | 1/68 |
| Lambdoidal craniosynostosis | 1.5% | 1/68 |
| Lower limb asymmetry | 1.5% | 1/68 |
| Marked delay in bone age | 1.5% | 1/68 |
| Patellar dislocation | 1.5% | 1/68 |
| Pectus carinatum | 1.5% | 1/68 |
| Pectus excavatum of inferior sternum | 1.5% | 1/68 |
| Posterior plagiocephaly | 1.5% | 1/68 |
| Prominent interphalangeal joints | 1.5% | 1/68 |
| Short foot | 1.5% | 1/68 |
| Short lower limbs | 1.5% | 1/68 |
| Short neck | 1.5% | 1/68 |
| Superior pectus carinatum | 1.5% | 1/68 |
| Thoracic kyphoscoliosis | 1.5% | 1/68 |
| Type A brachydactyly | 1.5% | 1/68 |
| Wormian bones | 1.5% | 1/68 |
| 2-3 toe syndactyly | 1.5% | 1/68 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 54.0% | 34/63 |
| Eczema | 15.9% | 10/63 |
| Prominent fingertip pads | 7.9% | 5/63 |
| Hirsutism | 6.3% | 4/63 |
| Abnormality of the nail | 4.8% | 3/63 |
| Single transverse palmar crease | 4.8% | 3/63 |
| Abnormality of the fingernails | 3.2% | 2/63 |
| Advanced eruption of teeth | 3.2% | 2/63 |
| Fine hair | 3.2% | 2/63 |
| Prominent eyelashes | 3.2% | 2/63 |
| Sparse hair | 3.2% | 2/63 |
| Thick hair | 3.2% | 2/63 |
| Thin nail | 3.2% | 2/63 |
| Abnormality of hair texture | 1.6% | 1/63 |
| Abnormality of dental eruption | 1.6% | 1/63 |
| Abnormal position of hair whorl | 1.6% | 1/63 |
| Abnormality of dental enamel | 1.6% | 1/63 |
| Abnormality of the nipple | 1.6% | 1/63 |
| Absent toenail | 1.6% | 1/63 |
| Cutis marmorata | 1.6% | 1/63 |
| Deep-set nails | 1.6% | 1/63 |
| Delayed eruption of teeth | 1.6% | 1/63 |
| High anterior hairline | 1.6% | 1/63 |
| Hypoplastic fifth fingernail | 1.6% | 1/63 |
| Ichthyosis | 1.6% | 1/63 |
| Inverted nipples | 1.6% | 1/63 |
| Oligodontia | 1.6% | 1/63 |
| Premature eruption of permanent teeth | 1.6% | 1/63 |
| Short nail | 1.6% | 1/63 |
| Small nail | 1.6% | 1/63 |
| Vascular skin abnormality | 1.6% | 1/63 |
| 2-3 toe syndactyly | 1.6% | 1/63 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 30.6% | 15/49 |
| Hypothyroidism | 14.3% | 7/49 |
| Growth hormone deficiency | 12.2% | 6/49 |
| Abnormality of the menstrual cycle | 2.0% | 1/49 |
| Hirsutism | 2.0% | 1/49 |
| Hypoglycemia | 2.0% | 1/49 |
| Precocious puberty in males | 2.0% | 1/49 |
| Abnormality of the metabolic system | 10.0% | 3/30 |
| Obesity | 6.7% | 2/30 |
| Abnormality of body weight | 3.3% | 1/30 |
| Abnormality of the immune system | 42.0% | 29/69 |
| Recurrent infections | 26.1% | 18/69 |
| Recurrent upper respiratory tract infections | 4.3% | 3/69 |
| Chronic otitis media | 2.9% | 2/69 |
| Recurrent respiratory infections | 2.9% | 2/69 |
| Recurrent otitis media | 2.9% | 2/69 |
| Fever | 1.4% | 1/69 |
| Recurrent urinary tract infections | 1.4% | 1/69 |
| Neoplasia | ||
| Neoplasia | 1.5% | 1/66 |
| Nephroblastoma (Wilms tumor) | 1.5% | 1/66 |