| Gender |
|
|
| Male |
51.5% |
34/66 |
| Female |
48.5% |
32/66 |
| General |
|
|
| Birth Length abnormalities |
1.5% |
1/66 |
| > P98 : Birth length greater than 97th percentile |
1.5% |
1/66 |
| Birth Weight abnormalities |
3.0% |
2/66 |
| > P98 : Large for gestational age |
3.0% |
2/66 |
| Birth Head circumference abnormalities |
1.5% |
1/66 |
| < P3 : Congenital microcephaly |
1.5% |
1/66 |
| Current Height abnormalities |
19.7% |
13/66 |
| < P3 : Short stature |
19.7% |
13/66 |
| Current Weight abnormalities |
13.6% |
9/66 |
| > P98 : Increased body weight |
7.6% |
5/66 |
| < P3 : Decreased body weight |
6.1% |
4/66 |
| Current Head circumference abnormalities |
6.1% |
4/66 |
| > P98 : Macrocephaly |
3.0% |
2/66 |
| < P3 : Microcephaly |
3.0% |
2/66 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
66/66 |
| Generalized hypotonia |
71.2% |
47/66 |
| Neonatal hypotonia |
54.5% |
36/66 |
| Global developmental delay |
31.8% |
21/66 |
| Exaggerated startle response |
25.8% |
17/66 |
| EEG abnormality |
18.2% |
12/66 |
| Infantile muscular hypotonia |
18.2% |
12/66 |
| Seizures |
16.7% |
11/66 |
| Abnormality of the nervous system |
13.6% |
9/66 |
| Developmental regression |
10.6% |
7/66 |
| Broad-based gait |
9.1% |
6/66 |
| Generalized tonic-clonic seizures |
7.6% |
5/66 |
| Horizontal nystagmus |
7.6% |
5/66 |
| Absence seizures |
6.1% |
4/66 |
| Atonic seizures |
6.1% |
4/66 |
| Gait disturbance |
6.1% |
4/66 |
| Nystagmus |
6.1% |
4/66 |
| Focal seizures with impairment of consciousness or awareness |
4.5% |
3/66 |
| Generalized seizures |
4.5% |
3/66 |
| Infantile spasms |
4.5% |
3/66 |
| Abnormality of movement |
3.0% |
2/66 |
| Ataxia |
3.0% |
2/66 |
| Decreased motor nerve conduction velocity |
3.0% |
2/66 |
| Gait ataxia |
3.0% |
2/66 |
| Spasticity |
3.0% |
2/66 |
| Unsteady gait |
3.0% |
2/66 |
| Abnormal peripheral action potential amplitude |
1.5% |
1/66 |
| Abnormal pyramidal signs |
1.5% |
1/66 |
| Babinski sign |
1.5% |
1/66 |
| Bilateral convulsive seizures |
1.5% |
1/66 |
| Bradykinesia |
1.5% |
1/66 |
| Decreased sensory nerve conduction velocity |
1.5% |
1/66 |
| Decreased amplitude of sensory action potentials |
1.5% |
1/66 |
| EEG with spike-wave complexes |
1.5% |
1/66 |
| EEG with temporal sharp waves |
1.5% |
1/66 |
| EMG |
1.5% |
1/66 |
| Encephalitis |
1.5% |
1/66 |
| Epileptic encephalopathy |
1.5% |
1/66 |
| Febrile seizures |
1.5% |
1/66 |
| Focal seizures |
1.5% |
1/66 |
| Focal seizures without impairment of consciousness or awareness |
1.5% |
1/66 |
| Focal clonic seizures |
1.5% |
1/66 |
| Generalized tonic seizures |
1.5% |
1/66 |
| Hypertonia |
1.5% |
1/66 |
| Involuntary movements |
1.5% |
1/66 |
| Limb hypertonia |
1.5% |
1/66 |
| Lower limb spasticity |
1.5% |
1/66 |
| Motor axonal neuropathy |
1.5% |
1/66 |
| Multifocal epileptiform discharges |
1.5% |
1/66 |
| Muscle fibrillation |
1.5% |
1/66 |
| Myoclonus |
1.5% |
1/66 |
| Peripheral axonal neuropathy |
1.5% |
1/66 |
| Reduced tendon reflexes |
1.5% |
1/66 |
| Severe global developmental delay |
1.5% |
1/66 |
| Status epilepticus |
1.5% |
1/66 |
| Stereotypic behavior |
1.5% |
1/66 |
| Stroke |
1.5% |
1/66 |
| Tethered cord |
1.5% |
1/66 |
| Toe walking |
1.5% |
1/66 |
| Tremor |
1.5% |
1/66 |
| Behavioral problems |
64.4% |
38/59 |
| Hypersomnia |
32.2% |
19/59 |
| Overfriendliness |
13.6% |
8/59 |
| Delayed social development |
11.9% |
7/59 |
| Stereotypic behavior |
11.9% |
7/59 |
| Abnormal social behavior |
10.2% |
6/59 |
| Exaggerated startle response |
8.5% |
5/59 |
| Autism |
5.1% |
3/59 |
| Impaired social interactions |
5.1% |
3/59 |
| Behavioral abnormality |
3.4% |
2/59 |
| Anxiety |
1.7% |
1/59 |
| Autistic behavior |
1.7% |
1/59 |
| Global developmental delay |
1.7% |
1/59 |
| Sleep disturbance |
1.7% |
1/59 |
| Brain abnormality |
62.1% |
36/58 |
| Delayed myelination |
17.2% |
10/58 |
| Dilation of lateral ventricles |
8.6% |
5/58 |
| Abnormality of the cerebral white matter |
6.9% |
4/58 |
| Cerebral white matter hypoplasia |
6.9% |
4/58 |
| Abnormality of the periventricular white matter |
3.4% |
2/58 |
| Extra-axial cerebrospinal fluid accumulation |
3.4% |
2/58 |
| Hypoplasia of the corpus callosum |
3.4% |
2/58 |
| Intracranial cystic lesion |
3.4% |
2/58 |
| Abnormality of the cerebellum |
1.7% |
1/58 |
| Abnormality of the corpus callosum |
1.7% |
1/58 |
| Abnormality of brain morphology |
1.7% |
1/58 |
| Brain atrophy |
1.7% |
1/58 |
| Cerebral atrophy |
1.7% |
1/58 |
| Corpus callosum atrophy |
1.7% |
1/58 |
| Enlarged brainstem |
1.7% |
1/58 |
| Enlarged sylvian cistern |
1.7% |
1/58 |
| Focal T2 hyperintense brainstem lesion |
1.7% |
1/58 |
| Gliosis |
1.7% |
1/58 |
| Perivascular spaces |
1.7% |
1/58 |
| Periventricular leukomalacia |
1.7% |
1/58 |
| Thick corpus callosum |
1.7% |
1/58 |
| Ventriculomegaly |
1.7% |
1/58 |
| Widened posterior fossa |
1.7% |
1/58 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
22.0% |
9/41 |
| Low-set ears |
9.8% |
4/41 |
| Protruding ear |
9.8% |
4/41 |
| Downslanted palpebral fissures |
2.4% |
1/41 |
| Abnormality of the eye |
71.4% |
35/49 |
| Strabismus |
28.6% |
14/49 |
| Almond-shaped palpebral fissure |
16.3% |
8/49 |
| Telecanthus |
14.3% |
7/49 |
| Epicanthus |
12.2% |
6/49 |
| Hypertelorism |
10.2% |
5/49 |
| Prominent epicanthal folds |
10.2% |
5/49 |
| Ptosis |
10.2% |
5/49 |
| Upslanted palpebral fissure |
8.2% |
4/49 |
| Abnormality of the eyelid |
6.1% |
3/49 |
| Downslanted palpebral fissures |
4.1% |
2/49 |
| Esotropia |
4.1% |
2/49 |
| Anteverted nares |
2.0% |
1/49 |
| Bilateral ptosis |
2.0% |
1/49 |
| Congenital glaucoma |
2.0% |
1/49 |
| Exotropia |
2.0% |
1/49 |
| Short palpebral fissure |
2.0% |
1/49 |
| Abnormality of the nose |
26.8% |
11/41 |
| Depressed nasal bridge |
24.4% |
10/41 |
| Anteverted nares |
2.4% |
1/41 |
| Broad columella |
2.4% |
1/41 |
| Abnormality of the mouth |
35.0% |
14/40 |
| High palate |
22.5% |
9/40 |
| Open mouth |
7.5% |
3/40 |
| Tented upper lip vermilion |
7.5% |
3/40 |
| Abnormality of the teeth |
2.5% |
1/40 |
| Cleft soft palate |
2.5% |
1/40 |
| Drooling |
2.5% |
1/40 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
29.5% |
18/61 |
| Cortical visual impairment |
8.2% |
5/61 |
| Nystagmus |
6.6% |
4/61 |
| Hypermetropia |
3.3% |
2/61 |
| Abnormality of refraction |
1.6% |
1/61 |
| Abnormality of visual evoked potentials |
1.6% |
1/61 |
| Abnormality of vision |
1.6% |
1/61 |
| Congenital glaucoma |
1.6% |
1/61 |
| High-grade hypermetropia |
1.6% |
1/61 |
| Myopia |
1.6% |
1/61 |
| Optic atrophy |
1.6% |
1/61 |
| Strabismus |
1.6% |
1/61 |
| Heart |
|
|
| Abnormality of the heart |
22.0% |
13/59 |
| Patent foramen ovale |
6.8% |
4/59 |
| Bradycardia |
3.4% |
2/59 |
| Ventricular septal defect |
3.4% |
2/59 |
| Abnormality of the systemic arterial tree |
1.7% |
1/59 |
| Muscular ventricular septal defect |
1.7% |
1/59 |
| Myocarditis |
1.7% |
1/59 |
| Patent ductus arteriosus after premature birth |
1.7% |
1/59 |
| Pulmonic stenosis |
1.7% |
1/59 |
| Pulmonary |
|
|
| Abnormality of the lungs |
85.7% |
6/7 |
| Hypopnea |
85.7% |
6/7 |
| Pneumonia |
28.6% |
2/7 |
| Abnormal respiratory system morphology |
14.3% |
1/7 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
96.7% |
58/60 |
| Feeding difficulties |
66.7% |
40/60 |
| Constipation |
51.7% |
31/60 |
| Dysphagia |
43.3% |
26/60 |
| Gastroesophageal reflux |
26.7% |
16/60 |
| Drooling |
10.0% |
6/60 |
| Gastrostomy tube feeding in infancy |
8.3% |
5/60 |
| Aspiration |
1.7% |
1/60 |
| Feeding difficulties in infancy |
1.7% |
1/60 |
| Poor suck |
1.7% |
1/60 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
18.5% |
10/54 |
| Cryptorchidism |
7.4% |
4/54 |
| Abnormality of the genitourinary system |
3.7% |
2/54 |
| Nephrolithiasis |
3.7% |
2/54 |
| Abnormality of the urinary system |
1.9% |
1/54 |
| Congenital megaureter |
1.9% |
1/54 |
| External genital hypoplasia |
1.9% |
1/54 |
| Hydronephrosis |
1.9% |
1/54 |
| Hyperplastic labia majora |
1.9% |
1/54 |
| Unilateral cryptorchidism |
1.9% |
1/54 |
| Uric acid urolithiasis independent of gout |
1.9% |
1/54 |
| Uterine prolapse |
1.9% |
1/54 |
| Skeleton |
|
|
| Skeletal abnormalities |
62.1% |
36/58 |
| Scoliosis |
20.7% |
12/58 |
| Pes planus |
19.0% |
11/58 |
| Hip dysplasia |
13.8% |
8/58 |
| Small hand |
13.8% |
8/58 |
| Tapered finger |
13.8% |
8/58 |
| Joint laxity |
12.1% |
7/58 |
| Abnormality of the hand |
10.3% |
6/58 |
| Short foot |
10.3% |
6/58 |
| Abnormality of the foot |
6.9% |
4/58 |
| Reduced bone mineral density |
5.2% |
3/58 |
| Abnormality of the hip bone |
3.4% |
2/58 |
| Dolichocephaly |
3.4% |
2/58 |
| Hip Subluxation |
3.4% |
2/58 |
| Joint hypermobility |
3.4% |
2/58 |
| Long fingers |
3.4% |
2/58 |
| Abnormal bone ossification |
1.7% |
1/58 |
| Abnormality of the skull |
1.7% |
1/58 |
| Abnormality of the lower limb |
1.7% |
1/58 |
| Abnormality of the hip joint |
1.7% |
1/58 |
| Abnormality of toe |
1.7% |
1/58 |
| Broad proximal phalanges of the hand |
1.7% |
1/58 |
| Clinodactyly of the 5th finger |
1.7% |
1/58 |
| Coxa valga |
1.7% |
1/58 |
| Finger joint hypermobility |
1.7% |
1/58 |
| Genu valgum |
1.7% |
1/58 |
| Knee flexion contracture |
1.7% |
1/58 |
| Long toe |
1.7% |
1/58 |
| Long hallux |
1.7% |
1/58 |
| Osteopenia |
1.7% |
1/58 |
| Prominent frontal sinuses |
1.7% |
1/58 |
| Thoracolumbar scoliosis |
1.7% |
1/58 |
| Vertebral fusion |
1.7% |
1/58 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
22.0% |
11/50 |
| Soft skin |
12.0% |
6/50 |
| Abnormality of the palmar creases |
2.0% |
1/50 |
| Abnormality of skin pigmentation |
2.0% |
1/50 |
| Abnormality of subcutaneous fat tissue |
2.0% |
1/50 |
| Deep palmar crease |
2.0% |
1/50 |
| Eczema |
2.0% |
1/50 |
| Lipoma |
2.0% |
1/50 |
| Multiple cafe-au-lait spots |
2.0% |
1/50 |
| Nevus |
2.0% |
1/50 |
| Prominent fingertip pads |
2.0% |
1/50 |
| Regional abnormality of skin |
2.0% |
1/50 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
23.6% |
13/55 |
| Vitamin D deficiency |
16.4% |
9/55 |
| Hypothyroidism |
5.5% |
3/55 |
| Hypogonadotrophic hypogonadism |
3.6% |
2/55 |
| Compensated hypothyroidism |
1.8% |
1/55 |
| Premature thelarche |
1.8% |
1/55 |
| Puberty and gonadal disorders |
1.8% |
1/55 |
| Abnormality of the metabolic system |
11.3% |
6/53 |
| Neonatal hyperbilirubinemia |
7.5% |
4/53 |
| Abnormal serum iron |
1.9% |
1/53 |
| Hypercholesterolemia |
1.9% |
1/53 |
| Hypouricemia |
1.9% |
1/53 |
| Abnormality of the immune system |
9.4% |
5/53 |
| Allergy |
1.9% |
1/53 |
| Aspiration pneumonia |
1.9% |
1/53 |
| Esophagitis |
1.9% |
1/53 |
| Neutropenia |
1.9% |
1/53 |
| Recurrent lower respiratory tract infections |
1.9% |
1/53 |
| Neoplasia |
|
|
| Neoplasia |
1.7% |
1/59 |
| Retinoblastoma |
1.7% |
1/59 |