Gender |
|
|
Male |
48.3% |
28/58 |
Female |
51.7% |
30/58 |
Indifferent |
0% |
0/58 |
Unknown |
0% |
0/58 |
General |
|
|
Birth Length abnormalities |
0% |
0/58 |
Birth Weight abnormalities |
1.7% |
1/58 |
> P98 : Large for gestational age |
1.7% |
1/58 |
Birth Head circumference abnormalities |
0% |
0/58 |
Current Height abnormalities |
22.4% |
13/58 |
< P3 : Short stature |
22.4% |
13/58 |
Current Weight abnormalities |
15.5% |
9/58 |
> P98 : Increased body weight |
8.6% |
5/58 |
< P3 : Decreased body weight |
6.9% |
4/58 |
Current Head circumference abnormalities |
5.2% |
3/58 |
> P98 : Macrocephaly |
3.4% |
2/58 |
< P3 : Microcephaly |
1.7% |
1/58 |
Neurology |
|
|
Neurological abnormalities |
100.0% |
58/58 |
Generalized hypotonia |
67.2% |
39/58 |
Neonatal hypotonia |
62.1% |
36/58 |
Global developmental delay |
36.2% |
21/58 |
Exaggerated startle response |
29.3% |
17/58 |
EEG abnormality |
20.7% |
12/58 |
Infantile muscular hypotonia |
20.7% |
12/58 |
Seizures |
17.2% |
10/58 |
Developmental regression |
12.1% |
7/58 |
Broad-based gait |
10.3% |
6/58 |
Generalized tonic-clonic seizures |
8.6% |
5/58 |
Horizontal nystagmus |
8.6% |
5/58 |
Absence seizures |
6.9% |
4/58 |
Atonic seizures |
6.9% |
4/58 |
Gait disturbance |
6.9% |
4/58 |
Nystagmus |
6.9% |
4/58 |
Focal seizures with impairment of consciousness or awareness |
5.2% |
3/58 |
Generalized seizures |
5.2% |
3/58 |
Infantile spasms |
5.2% |
3/58 |
Abnormality of movement |
3.4% |
2/58 |
Ataxia |
3.4% |
2/58 |
Decreased motor nerve conduction velocity |
3.4% |
2/58 |
Gait ataxia |
3.4% |
2/58 |
Spasticity |
3.4% |
2/58 |
Unsteady gait |
3.4% |
2/58 |
Abnormal peripheral action potential amplitude |
1.7% |
1/58 |
Abnormal pyramidal signs |
1.7% |
1/58 |
Babinski sign |
1.7% |
1/58 |
Bilateral convulsive seizures |
1.7% |
1/58 |
Bradykinesia |
1.7% |
1/58 |
Decreased amplitude of sensory action potentials |
1.7% |
1/58 |
Decreased sensory nerve conduction velocity |
1.7% |
1/58 |
EEG with temporal sharp waves |
1.7% |
1/58 |
EEG with spike-wave complexes |
1.7% |
1/58 |
EMG |
1.7% |
1/58 |
Encephalitis |
1.7% |
1/58 |
Epileptic encephalopathy |
1.7% |
1/58 |
Febrile seizures |
1.7% |
1/58 |
Focal clonic seizures |
1.7% |
1/58 |
Focal seizures without impairment of consciousness or awareness |
1.7% |
1/58 |
Focal seizures |
1.7% |
1/58 |
Generalized tonic seizures |
1.7% |
1/58 |
Hypertonia |
1.7% |
1/58 |
Involuntary movements |
1.7% |
1/58 |
Limb hypertonia |
1.7% |
1/58 |
Lower limb spasticity |
1.7% |
1/58 |
Motor axonal neuropathy |
1.7% |
1/58 |
Multifocal epileptiform discharges |
1.7% |
1/58 |
Muscle fibrillation |
1.7% |
1/58 |
Myoclonus |
1.7% |
1/58 |
Peripheral axonal neuropathy |
1.7% |
1/58 |
Severe global developmental delay |
1.7% |
1/58 |
Status epilepticus |
1.7% |
1/58 |
Stereotypic behavior |
1.7% |
1/58 |
Stroke |
1.7% |
1/58 |
Tethered cord |
1.7% |
1/58 |
Toe walking |
1.7% |
1/58 |
Tremor |
1.7% |
1/58 |
Behavioral problems |
58.8% |
30/51 |
Hypersomnia |
37.3% |
19/51 |
Overfriendliness |
15.7% |
8/51 |
Stereotypic behavior |
13.7% |
7/51 |
Abnormal social behavior |
11.8% |
6/51 |
Autism |
5.9% |
3/51 |
Impaired social interactions |
5.9% |
3/51 |
Behavioral abnormality |
3.9% |
2/51 |
Anxiety |
2.0% |
1/51 |
Autistic behavior |
2.0% |
1/51 |
Sleep disturbance |
2.0% |
1/51 |
Brain abnormality |
60.8% |
31/51 |
Delayed myelination |
19.6% |
10/51 |
Dilation of lateral ventricles |
9.8% |
5/51 |
Abnormality of the cerebral white matter |
7.8% |
4/51 |
Cerebral white matter hypoplasia |
7.8% |
4/51 |
Abnormality of the periventricular white matter |
3.9% |
2/51 |
Extra-axial cerebrospinal fluid accumulation |
3.9% |
2/51 |
Hypoplasia of the corpus callosum |
3.9% |
2/51 |
Intracranial cystic lesion |
3.9% |
2/51 |
Abnormality of the cerebellum |
2.0% |
1/51 |
Abnormality of the corpus callosum |
2.0% |
1/51 |
Abnormality of brain morphology |
2.0% |
1/51 |
Brain atrophy |
2.0% |
1/51 |
Cerebral atrophy |
2.0% |
1/51 |
Corpus callosum atrophy |
2.0% |
1/51 |
Enlarged brainstem |
2.0% |
1/51 |
Enlarged sylvian cistern |
2.0% |
1/51 |
Focal T2 hyperintense brainstem lesion |
2.0% |
1/51 |
Gliosis |
2.0% |
1/51 |
Periventricular leukomalacia |
2.0% |
1/51 |
Perivascular spaces |
2.0% |
1/51 |
Thick corpus callosum |
2.0% |
1/51 |
Ventriculomegaly |
2.0% |
1/51 |
Widened posterior fossa |
2.0% |
1/51 |
Facial abnormalities |
|
|
Abnormality of the ear |
17.1% |
6/35 |
Protruding ear |
11.4% |
4/35 |
Downslanted palpebral fissures |
2.9% |
1/35 |
Low-set ears |
2.9% |
1/35 |
Abnormality of the eye |
66.7% |
28/42 |
Strabismus |
33.3% |
14/42 |
Almond-shaped palpebral fissure |
19.0% |
8/42 |
Epicanthus |
14.3% |
6/42 |
Abnormality of the eyelid |
7.1% |
3/42 |
Downslanted palpebral fissures |
4.8% |
2/42 |
Esotropia |
4.8% |
2/42 |
Bilateral ptosis |
2.4% |
1/42 |
Congenital glaucoma |
2.4% |
1/42 |
Exotropia |
2.4% |
1/42 |
Hypertelorism |
2.4% |
1/42 |
Ptosis |
2.4% |
1/42 |
Short palpebral fissure |
2.4% |
1/42 |
Telecanthus |
2.4% |
1/42 |
Abnormality of the nose |
11.8% |
4/34 |
Depressed nasal bridge |
8.8% |
3/34 |
Anteverted nares |
2.9% |
1/34 |
Broad columella |
2.9% |
1/34 |
Abnormality of the mouth |
28.6% |
10/35 |
High palate |
22.9% |
8/35 |
Open mouth |
5.7% |
2/35 |
Drooling |
2.9% |
1/35 |
Tented upper lip vermilion |
2.9% |
1/35 |
Visual and hearing impairments |
|
|
Abnormal vision |
23.6% |
13/55 |
Cortical visual impairment |
9.1% |
5/55 |
Hypermetropia |
3.6% |
2/55 |
Abnormality of vision |
1.8% |
1/55 |
Abnormality of refraction |
1.8% |
1/55 |
Abnormality of visual evoked potentials |
1.8% |
1/55 |
Congenital glaucoma |
1.8% |
1/55 |
High-grade hypermetropia |
1.8% |
1/55 |
Myopia |
1.8% |
1/55 |
Optic atrophy |
1.8% |
1/55 |
Heart |
|
|
Abnormality of the heart |
18.9% |
10/53 |
Patent foramen ovale |
5.7% |
3/53 |
Bradycardia |
3.8% |
2/53 |
Ventricular septal defect |
3.8% |
2/53 |
Abnormality of the systemic arterial tree |
1.9% |
1/53 |
Muscular ventricular septal defect |
1.9% |
1/53 |
Patent ductus arteriosus after premature birth |
1.9% |
1/53 |
Pulmonic stenosis |
1.9% |
1/53 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
96.2% |
51/53 |
Feeding difficulties |
75.5% |
40/53 |
Constipation |
50.9% |
27/53 |
Dysphagia |
37.7% |
20/53 |
Gastroesophageal reflux |
28.3% |
15/53 |
Gastrostomy tube feeding in infancy |
9.4% |
5/53 |
Drooling |
3.8% |
2/53 |
Aspiration |
1.9% |
1/53 |
Poor suck |
1.9% |
1/53 |
Urogenital |
|
|
Abnormality of the urogenital system |
17.3% |
9/52 |
Cryptorchidism |
5.8% |
3/52 |
Nephrolithiasis |
3.8% |
2/52 |
Abnormality of the urinary system |
1.9% |
1/52 |
Congenital megaureter |
1.9% |
1/52 |
External genital hypoplasia |
1.9% |
1/52 |
Hydronephrosis |
1.9% |
1/52 |
Hyperplastic labia majora |
1.9% |
1/52 |
Unilateral cryptorchidism |
1.9% |
1/52 |
Uric acid urolithiasis independent of gout |
1.9% |
1/52 |
Uterine prolapse |
1.9% |
1/52 |
Skeleton |
|
|
Skeletal abnormalities |
62.3% |
33/53 |
Scoliosis |
22.6% |
12/53 |
Pes planus |
20.8% |
11/53 |
Hip dysplasia |
15.1% |
8/53 |
Small hand |
15.1% |
8/53 |
Tapered finger |
15.1% |
8/53 |
Abnormality of the hand |
11.3% |
6/53 |
Joint laxity |
11.3% |
6/53 |
Short foot |
11.3% |
6/53 |
Abnormality of the foot |
7.5% |
4/53 |
Abnormality of the hip bone |
3.8% |
2/53 |
Dolichocephaly |
3.8% |
2/53 |
Joint hypermobility |
3.8% |
2/53 |
Long fingers |
3.8% |
2/53 |
Reduced bone mineral density |
3.8% |
2/53 |
Abnormality of toe |
1.9% |
1/53 |
Abnormal bone ossification |
1.9% |
1/53 |
Abnormality of the lower limb |
1.9% |
1/53 |
Abnormality of the skull |
1.9% |
1/53 |
Abnormality of the hip joint |
1.9% |
1/53 |
Broad proximal phalanges of the hand |
1.9% |
1/53 |
Clinodactyly of the 5th finger |
1.9% |
1/53 |
Coxa valga |
1.9% |
1/53 |
Finger joint hypermobility |
1.9% |
1/53 |
Genu valgum |
1.9% |
1/53 |
Hip Subluxation |
1.9% |
1/53 |
Knee flexion contracture |
1.9% |
1/53 |
Long hallux |
1.9% |
1/53 |
Long toe |
1.9% |
1/53 |
Osteopenia |
1.9% |
1/53 |
Prominent frontal sinuses |
1.9% |
1/53 |
Thoracolumbar scoliosis |
1.9% |
1/53 |
Vertebral fusion |
1.9% |
1/53 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
20.8% |
10/48 |
Soft skin |
12.5% |
6/48 |
Abnormality of subcutaneous fat tissue |
2.1% |
1/48 |
Abnormality of the palmar creases |
2.1% |
1/48 |
Abnormality of skin pigmentation |
2.1% |
1/48 |
Deep palmar crease |
2.1% |
1/48 |
Eczema |
2.1% |
1/48 |
Lipoma |
2.1% |
1/48 |
Nevus |
2.1% |
1/48 |
Prominent fingertip pads |
2.1% |
1/48 |
Regional abnormality of skin |
2.1% |
1/48 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
21.2% |
11/52 |
Vitamin D deficiency |
13.5% |
7/52 |
Hypothyroidism |
5.8% |
3/52 |
Hypogonadotrophic hypogonadism |
3.8% |
2/52 |
Compensated hypothyroidism |
1.9% |
1/52 |
Premature thelarche |
1.9% |
1/52 |
Puberty and gonadal disorders |
1.9% |
1/52 |
Abnormality of the metabolic system |
11.5% |
6/52 |
Neonatal hyperbilirubinemia |
7.7% |
4/52 |
Abnormal serum iron |
1.9% |
1/52 |
Hypercholesterolemia |
1.9% |
1/52 |
Hypouricemia |
1.9% |
1/52 |
Abnormality of the immune system |
9.6% |
5/52 |
Allergy |
1.9% |
1/52 |
Aspiration pneumonia |
1.9% |
1/52 |
Esophagitis |
1.9% |
1/52 |
Neutropenia |
1.9% |
1/52 |
Recurrent lower respiratory tract infections |
1.9% |
1/52 |
Neoplasia |
|
|
Neoplasia |
1.9% |
1/52 |
Retinoblastoma |
1.9% |
1/52 |