| Gender |
|
|
| Male |
70.6% |
77/109 |
| Female |
29.4% |
32/109 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/164 |
| Birth Weight abnormalities |
7.2% |
12/167 |
| > P98 : Large for gestational age |
6.0% |
10/167 |
| < P3 : Small for gestational age |
1.2% |
2/167 |
| Birth Head circumference abnormalities |
9.1% |
15/164 |
| > P98 : Macrocephaly at birth |
9.1% |
15/164 |
| Current Height abnormalities |
47.0% |
78/166 |
| > P98 : Tall stature |
46.4% |
77/166 |
| < P3 : Short stature |
0.6% |
1/166 |
| Current Weight abnormalities |
28.9% |
48/166 |
| > P98 : Increased body weight |
28.3% |
47/166 |
| < P3 : Decreased body weight |
0.6% |
1/166 |
| Current Head circumference abnormalities |
49.4% |
88/178 |
| > P98 : Macrocephaly |
47.2% |
84/178 |
| < P3 : Microcephaly |
2.2% |
4/178 |
| Neurology |
|
|
| Neurological abnormalities |
56.6% |
47/83 |
| Generalized hypotonia |
22.9% |
19/83 |
| Seizures |
9.6% |
8/83 |
| Abnormality of coordination |
6.0% |
5/83 |
| Global developmental delay |
4.8% |
4/83 |
| Neurodevelopmental delay |
4.8% |
4/83 |
| Clumsiness |
3.6% |
3/83 |
| Muscular hypotonia |
3.6% |
3/83 |
| Absent speech |
2.4% |
2/83 |
| Ataxia |
2.4% |
2/83 |
| Decreased facial expression |
2.4% |
2/83 |
| Difficulty walking |
2.4% |
2/83 |
| Febrile seizures |
2.4% |
2/83 |
| Hernia |
2.4% |
2/83 |
| Hypomimic face |
2.4% |
2/83 |
| Increased muscle fatiguability |
2.4% |
2/83 |
| Motor delay |
2.4% |
2/83 |
| Neurodevelopmental abnormality |
2.4% |
2/83 |
| Sleep disturbance |
2.4% |
2/83 |
| Weak voice |
2.4% |
2/83 |
| Absence seizures |
1.2% |
1/83 |
| Cerebral palsy |
1.2% |
1/83 |
| Cognitive impairment |
1.2% |
1/83 |
| Complex febrile seizures |
1.2% |
1/83 |
| EEG abnormality |
1.2% |
1/83 |
| EEG with centrotemporal focal spike waves |
1.2% |
1/83 |
| Focal seizures |
1.2% |
1/83 |
| Focal seizures, afebril |
1.2% |
1/83 |
| Generalized tonic-clonic seizures |
1.2% |
1/83 |
| Headache |
1.2% |
1/83 |
| Impaired pain sensation |
1.2% |
1/83 |
| Myopathic facies |
1.2% |
1/83 |
| Neonatal hypotonia |
1.2% |
1/83 |
| Normal interictal EEG |
1.2% |
1/83 |
| Poor motor coordination |
1.2% |
1/83 |
| Poor coordination |
1.2% |
1/83 |
| Poor hand-eye coordination |
1.2% |
1/83 |
| Poor fine motor coordination |
1.2% |
1/83 |
| Postural instability |
1.2% |
1/83 |
| Simple febrile seizures |
1.2% |
1/83 |
| Sleep-wake cycle disturbance |
1.2% |
1/83 |
| Vertigo |
1.2% |
1/83 |
| Behavioral problems |
86.3% |
88/102 |
| Autism |
55.9% |
57/102 |
| Short attention span |
26.5% |
27/102 |
| Insomnia |
17.6% |
18/102 |
| Impaired social interactions |
15.7% |
16/102 |
| Poor eye contact |
13.7% |
14/102 |
| Repetitive compulsive behavior |
12.7% |
13/102 |
| Autistic behavior |
10.8% |
11/102 |
| Behavioral abnormality |
10.8% |
11/102 |
| Sleep disturbance |
10.8% |
11/102 |
| Abnormal social behavior |
8.8% |
9/102 |
| Stereotypic behavior |
8.8% |
9/102 |
| Aggressive behavior |
6.9% |
7/102 |
| Anxiety |
6.9% |
7/102 |
| Self-injurious behavior |
5.9% |
6/102 |
| Abnormal emotion/affect behavior |
4.9% |
5/102 |
| Attention deficit hyperactivity disorder |
4.9% |
5/102 |
| Irritability |
4.9% |
5/102 |
| Abnormal fear/anxiety-related behavior |
3.9% |
4/102 |
| Depression |
3.9% |
4/102 |
| Hyperactivity |
3.9% |
4/102 |
| Abnormal aggressive, impulsive or violent behavior |
2.9% |
3/102 |
| Global developmental delay |
2.9% |
3/102 |
| Impaired social reciprocity |
2.9% |
3/102 |
| Inappropriate crying |
2.9% |
3/102 |
| Lack of peer relationships |
2.9% |
3/102 |
| Delusions |
2.0% |
2/102 |
| Echolalia |
2.0% |
2/102 |
| Psychosis |
2.0% |
2/102 |
| Anorexia |
1.0% |
1/102 |
| Auditory hallucinations |
1.0% |
1/102 |
| Enuresis |
1.0% |
1/102 |
| Excessive daytime sleepiness |
1.0% |
1/102 |
| Hearing abnormality |
1.0% |
1/102 |
| Impaired use of nonverbal behaviors |
1.0% |
1/102 |
| Inflexible adherence to routines or rituals |
1.0% |
1/102 |
| Lack of spontaneous play |
1.0% |
1/102 |
| Memory impairment |
1.0% |
1/102 |
| Motor tics |
1.0% |
1/102 |
| Obsessive-compulsive behavior |
1.0% |
1/102 |
| Pica |
1.0% |
1/102 |
| Schizophrenia |
1.0% |
1/102 |
| Self-mutilation |
1.0% |
1/102 |
| Brain abnormality |
21.7% |
15/69 |
| EEG abnormality |
5.8% |
4/69 |
| Ventriculomegaly |
5.8% |
4/69 |
| Abnormality of the cerebral white matter |
4.3% |
3/69 |
| Abnormality of the septum pellucidum |
1.4% |
1/69 |
| Abnormal brain FDG positron emission tomography |
1.4% |
1/69 |
| Abnormality of the calvaria |
1.4% |
1/69 |
| Absent septum pellucidum |
1.4% |
1/69 |
| Cerebral cortical atrophy |
1.4% |
1/69 |
| Cerebellar cyst |
1.4% |
1/69 |
| Delayed CNS myelination |
1.4% |
1/69 |
| Hydrocephalus |
1.4% |
1/69 |
| Morphological abnormality of the central nervous system |
1.4% |
1/69 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
31.3% |
20/64 |
| Macrotia |
12.5% |
8/64 |
| Large earlobe |
9.4% |
6/64 |
| Posteriorly rotated ears |
4.7% |
3/64 |
| Low-set ears |
3.1% |
2/64 |
| Attached earlobe |
1.6% |
1/64 |
| Cupped ear |
1.6% |
1/64 |
| Large fleshy ears |
1.6% |
1/64 |
| Otitis media |
1.6% |
1/64 |
| Pointed helix |
1.6% |
1/64 |
| Preauricular skin tag |
1.6% |
1/64 |
| Recurrent otitis media |
1.6% |
1/64 |
| Underfolded helix |
1.6% |
1/64 |
| Uplifted earlobe |
1.6% |
1/64 |
| Abnormality of the eye |
56.7% |
38/67 |
| Downslanted palpebral fissures |
25.4% |
17/67 |
| Hypertelorism |
25.4% |
17/67 |
| Prominent supraorbital ridges |
17.9% |
12/67 |
| Periorbital fullness |
4.5% |
3/67 |
| Strabismus |
4.5% |
3/67 |
| Congenital ptosis |
3.0% |
2/67 |
| Deeply set eye |
3.0% |
2/67 |
| Epicanthus |
3.0% |
2/67 |
| Ptosis |
3.0% |
2/67 |
| Abnormal conjugate eye movement |
1.5% |
1/67 |
| Cataract |
1.5% |
1/67 |
| Esotropia |
1.5% |
1/67 |
| Exotropia |
1.5% |
1/67 |
| Glaucoma |
1.5% |
1/67 |
| Iris atrophy |
1.5% |
1/67 |
| Long palpebral fissure |
1.5% |
1/67 |
| Long eyelashes |
1.5% |
1/67 |
| Medial flaring of the eyebrow |
1.5% |
1/67 |
| Proptosis |
1.5% |
1/67 |
| Telecanthus |
1.5% |
1/67 |
| Underdeveloped supraorbital ridges |
1.5% |
1/67 |
| Upslanted palpebral fissure |
1.5% |
1/67 |
| Abnormality of the nose |
31.7% |
20/63 |
| Wide nose |
11.1% |
7/63 |
| Abnormality of the external nose |
4.8% |
3/63 |
| Wide nasal bridge |
4.8% |
3/63 |
| Anteverted nares |
3.2% |
2/63 |
| Prominent nasal tip |
3.2% |
2/63 |
| Broad nasal tip |
1.6% |
1/63 |
| Convex nasal ridge |
1.6% |
1/63 |
| Depressed nasal bridge |
1.6% |
1/63 |
| Long philtrum |
1.6% |
1/63 |
| Pear-shaped nose |
1.6% |
1/63 |
| Short nose |
1.6% |
1/63 |
| Thick nasal alae |
1.6% |
1/63 |
| Abnormality of the mouth |
22.0% |
13/59 |
| High palate |
10.2% |
6/59 |
| Long philtrum |
5.1% |
3/59 |
| Thick lower lip vermilion |
3.4% |
2/59 |
| Thin upper lip vermilion |
3.4% |
2/59 |
| Abnormality of the gingiva |
1.7% |
1/59 |
| Abnormality of dental color |
1.7% |
1/59 |
| Abnormality of the teeth |
1.7% |
1/59 |
| Bifid uvula |
1.7% |
1/59 |
| Downturned corners of mouth |
1.7% |
1/59 |
| Open bite |
1.7% |
1/59 |
| Open mouth |
1.7% |
1/59 |
| Smooth philtrum |
1.7% |
1/59 |
| Thick vermilion border |
1.7% |
1/59 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
7.9% |
5/63 |
| Abnormality of the ear |
1.6% |
1/63 |
| Behavioral abnormality |
1.6% |
1/63 |
| Hearing impairment |
1.6% |
1/63 |
| Hypermetropia |
1.6% |
1/63 |
| Mild hearing impairment |
1.6% |
1/63 |
| Abnormal vision |
11.5% |
7/61 |
| Myopia |
9.8% |
6/61 |
| Abnormality of vision |
1.6% |
1/61 |
| Astigmatism |
1.6% |
1/61 |
| Heart |
|
|
| Abnormality of the heart |
10.5% |
6/57 |
| Patent foramen ovale |
3.5% |
2/57 |
| Cardiomegaly |
1.8% |
1/57 |
| Heart murmur |
1.8% |
1/57 |
| Hypertension |
1.8% |
1/57 |
| Left ventricular septal hypertrophy |
1.8% |
1/57 |
| Mitral regurgitation |
1.8% |
1/57 |
| Right ventricular dilatation |
1.8% |
1/57 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
50.0% |
36/72 |
| Constipation |
27.8% |
20/72 |
| Diarrhea |
9.7% |
7/72 |
| Gastroesophageal reflux |
6.9% |
5/72 |
| Abnormality of the gastrointestinal tract |
5.6% |
4/72 |
| Chronic diarrhea |
4.2% |
3/72 |
| Abdominal pain |
2.8% |
2/72 |
| Chronic constipation |
2.8% |
2/72 |
| Feeding difficulties |
2.8% |
2/72 |
| Abdominal distention |
1.4% |
1/72 |
| Abnormality of the duodenum |
1.4% |
1/72 |
| Anal fissure |
1.4% |
1/72 |
| Bowel incontinence |
1.4% |
1/72 |
| Dysphagia |
1.4% |
1/72 |
| Esophagitis |
1.4% |
1/72 |
| Functional abnormality of the gastrointestinal tract |
1.4% |
1/72 |
| Inflammation of the large intestine |
1.4% |
1/72 |
| Intermittent diarrhea |
1.4% |
1/72 |
| Pyloric stenosis |
1.4% |
1/72 |
| Vomiting |
1.4% |
1/72 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
14.8% |
9/61 |
| Cryptorchidism |
4.9% |
3/61 |
| Hydrocele testis |
3.3% |
2/61 |
| Macroorchidism |
3.3% |
2/61 |
| Abnormality of the kidney |
1.6% |
1/61 |
| Uterine leiomyoma |
1.6% |
1/61 |
| Skeleton |
|
|
| Skeletal abnormalities |
52.9% |
36/68 |
| Pes planus |
17.6% |
12/68 |
| Abnormality of the teeth |
4.4% |
3/68 |
| Joint hypermobility |
4.4% |
3/68 |
| Scoliosis |
4.4% |
3/68 |
| Thoracolumbar scoliosis |
4.4% |
3/68 |
| Abnormal jaw morphology |
2.9% |
2/68 |
| Abnormality of the knees |
2.9% |
2/68 |
| Accelerated skeletal maturation |
2.9% |
2/68 |
| Arachnodactyly |
2.9% |
2/68 |
| Clinodactyly of the 5th finger |
2.9% |
2/68 |
| Large hands |
2.9% |
2/68 |
| Long foot |
2.9% |
2/68 |
| Pectus excavatum |
2.9% |
2/68 |
| Premature loss of primary teeth |
2.9% |
2/68 |
| Thoracic kyphosis |
2.9% |
2/68 |
| Abnormality of the sternum |
1.5% |
1/68 |
| Abnormality of limbs |
1.5% |
1/68 |
| Abnormality of the calvaria |
1.5% |
1/68 |
| Ankle swelling |
1.5% |
1/68 |
| Broad phalanges of the hand |
1.5% |
1/68 |
| Dysharmonic accelerated bone age |
1.5% |
1/68 |
| Flexion contracture of finger |
1.5% |
1/68 |
| Generalized joint laxity |
1.5% |
1/68 |
| Hand muscle weakness |
1.5% |
1/68 |
| Hemihypertrophy |
1.5% |
1/68 |
| Hemihypotrophy of lower limb |
1.5% |
1/68 |
| Hernia |
1.5% |
1/68 |
| Hip dysplasia |
1.5% |
1/68 |
| Increased laxity of ankles |
1.5% |
1/68 |
| Increased arm span |
1.5% |
1/68 |
| Joint laxity |
1.5% |
1/68 |
| Kyphosis |
1.5% |
1/68 |
| Long fingers |
1.5% |
1/68 |
| Long toe |
1.5% |
1/68 |
| Lumbar hyperlordosis |
1.5% |
1/68 |
| Marked delay in bone age |
1.5% |
1/68 |
| Posterior plagiocephaly |
1.5% |
1/68 |
| Rheumatoid arthritis |
1.5% |
1/68 |
| Sandal gap |
1.5% |
1/68 |
| Scapular winging |
1.5% |
1/68 |
| Short palm |
1.5% |
1/68 |
| Short third metatarsal |
1.5% |
1/68 |
| Short fourth metatarsal |
1.5% |
1/68 |
| Short foot |
1.5% |
1/68 |
| Short 4th metacarpal |
1.5% |
1/68 |
| Short finger |
1.5% |
1/68 |
| Stiff interphalangeal joints |
1.5% |
1/68 |
| Talipes valgus |
1.5% |
1/68 |
| Tall stature |
1.5% |
1/68 |
| Toe walking |
1.5% |
1/68 |
| Widely spaced teeth |
1.5% |
1/68 |
| 2-3 toe cutaneous syndactyly |
1.5% |
1/68 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
22.4% |
13/58 |
| Striae distensae |
6.9% |
4/58 |
| Abnormal hair whorl |
1.7% |
1/58 |
| Eczema |
1.7% |
1/58 |
| Epidermal nevus |
1.7% |
1/58 |
| Few cafe-au-lait spots |
1.7% |
1/58 |
| Fibroma |
1.7% |
1/58 |
| Hyperextensible skin |
1.7% |
1/58 |
| Hyperpigmentation of the skin |
1.7% |
1/58 |
| Hypopigmentation of the skin |
1.7% |
1/58 |
| Misalignment of teeth |
1.7% |
1/58 |
| Nevus flammeus of the forehead |
1.7% |
1/58 |
| Preauricular skin tag |
1.7% |
1/58 |
| Psoriasis |
1.7% |
1/58 |
| Seborrheic dermatitis |
1.7% |
1/58 |
| Urticaria |
1.7% |
1/58 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
10.9% |
6/55 |
| Hypothyroidism |
3.6% |
2/55 |
| Precocious puberty |
3.6% |
2/55 |
| Diabetes mellitus |
1.8% |
1/55 |
| Graves disease |
1.8% |
1/55 |
| Abnormality of the metabolic system |
10.7% |
6/56 |
| Neonatal hyperbilirubinemia |
8.9% |
5/56 |
| Type I diabetes mellitus |
1.8% |
1/56 |
| Abnormality of the immune system |
10.9% |
6/55 |
| Food intolerance |
3.6% |
2/55 |
| Gluten intolerance |
3.6% |
2/55 |
| Abnormality of the auditory canal |
1.8% |
1/55 |
| Episodic fever |
1.8% |
1/55 |
| Neutropenia |
1.8% |
1/55 |
| Precocious puberty |
1.8% |
1/55 |
| Recurrent otitis media |
1.8% |
1/55 |
| Recurrent infections |
1.8% |
1/55 |
| Unexplained fevers |
1.8% |
1/55 |
| Neoplasia |
|
|
| Neoplasia |
6.8% |
4/59 |
| Glabellar hemangioma |
5.1% |
3/59 |
| Fibrosarcoma |
1.7% |
1/59 |