| Gender |
|
|
| Male |
54.9% |
39/71 |
| Female |
45.1% |
32/71 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/71 |
| Birth Weight abnormalities |
2.8% |
2/71 |
| > P98 : Large for gestational age |
1.4% |
1/71 |
| < P3 : Small for gestational age |
1.4% |
1/71 |
| Birth Head circumference abnormalities |
0% |
0/71 |
| Current Height abnormalities |
2.8% |
2/71 |
| < P3 : Short stature |
2.8% |
2/71 |
| Current Weight abnormalities |
1.4% |
1/71 |
| < P3 : Decreased body weight |
1.4% |
1/71 |
| Current Head circumference abnormalities |
15.5% |
11/71 |
| < P3 : Microcephaly |
15.5% |
11/71 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
71/71 |
| Generalized tonic-clonic seizures |
32.4% |
23/71 |
| Focal myoclonic seizures |
26.8% |
19/71 |
| Myoclonus |
23.9% |
17/71 |
| Bilateral convulsive seizures |
18.3% |
13/71 |
| Muscular hypotonia |
18.3% |
13/71 |
| Epileptic encephalopathy |
14.1% |
10/71 |
| Focal motor seizures |
11.3% |
8/71 |
| Focal seizures |
11.3% |
8/71 |
| Spasticity |
11.3% |
8/71 |
| Ataxia |
9.9% |
7/71 |
| Tremor |
9.9% |
7/71 |
| Febrile seizures |
8.5% |
6/71 |
| Focal clonic seizures |
8.5% |
6/71 |
| Nystagmus |
8.5% |
6/71 |
| Dysarthria |
7.0% |
5/71 |
| Dystonia |
7.0% |
5/71 |
| Generalized myoclonic seizures |
7.0% |
5/71 |
| Infantile axial hypotonia |
7.0% |
5/71 |
| Generalized clonic seizures |
5.6% |
4/71 |
| Postural tremor |
5.6% |
4/71 |
| Sleep disturbance |
5.6% |
4/71 |
| Abnormal pyramidal signs |
4.2% |
3/71 |
| Absence seizures |
4.2% |
3/71 |
| Facial tics |
4.2% |
3/71 |
| Status epilepticus |
4.2% |
3/71 |
| Dyskinesia |
2.8% |
2/71 |
| Dysmetria |
2.8% |
2/71 |
| Epilepsia partialis continua |
2.8% |
2/71 |
| Focal autonomic seizures |
2.8% |
2/71 |
| Involuntary movements |
2.8% |
2/71 |
| Jerky ocular pursuit movements |
2.8% |
2/71 |
| Limb dystonia |
2.8% |
2/71 |
| Opisthotonus |
2.8% |
2/71 |
| Poor fine motor coordination |
2.8% |
2/71 |
| Rigidity |
2.8% |
2/71 |
| Rotary nystagmus |
2.8% |
2/71 |
| Apnea |
1.4% |
1/71 |
| Bradykinesia |
1.4% |
1/71 |
| Brisk reflexes |
1.4% |
1/71 |
| Choreoathetosis |
1.4% |
1/71 |
| Dysdiadochokinesis |
1.4% |
1/71 |
| Dysphagia |
1.4% |
1/71 |
| Eyelid myoclonias |
1.4% |
1/71 |
| Gait ataxia |
1.4% |
1/71 |
| Generalized hypotonia |
1.4% |
1/71 |
| Hemiplegia |
1.4% |
1/71 |
| Hemiplegia/hemiparesis |
1.4% |
1/71 |
| Horizontal nystagmus |
1.4% |
1/71 |
| Hypertonia |
1.4% |
1/71 |
| Infantile spasms |
1.4% |
1/71 |
| Limb tremor |
1.4% |
1/71 |
| Mixed demyelinating and axonal polyneuropathy |
1.4% |
1/71 |
| Motor axonal neuropathy |
1.4% |
1/71 |
| Muscular hypotonia of the trunk |
1.4% |
1/71 |
| Myoclonic atonic seizures |
1.4% |
1/71 |
| Parkinsonism |
1.4% |
1/71 |
| Paroxysmal dystonia |
1.4% |
1/71 |
| Poor coordination |
1.4% |
1/71 |
| Reduced tendon reflexes |
1.4% |
1/71 |
| Severe muscular hypotonia |
1.4% |
1/71 |
| Spastic hemiparesis |
1.4% |
1/71 |
| Supranuclear gaze palsy |
1.4% |
1/71 |
| Tetraplegia |
1.4% |
1/71 |
| Tongue fasciculations |
1.4% |
1/71 |
| Behavioral problems |
85.7% |
12/14 |
| Drooling |
21.4% |
3/14 |
| Behavioral abnormality |
14.3% |
2/14 |
| Hyperactivity |
14.3% |
2/14 |
| Auditory hallucinations |
7.1% |
1/14 |
| Autism |
7.1% |
1/14 |
| Depression |
7.1% |
1/14 |
| Disinhibition |
7.1% |
1/14 |
| Irritability |
7.1% |
1/14 |
| Paranoia |
7.1% |
1/14 |
| Poor eye contact |
7.1% |
1/14 |
| Psychosis |
7.1% |
1/14 |
| Self-injurious behavior |
7.1% |
1/14 |
| Short attention span |
7.1% |
1/14 |
| Visual hallucinations |
7.1% |
1/14 |
| Brain abnormality |
63.0% |
34/54 |
| Cerebellar atrophy |
18.5% |
10/54 |
| Delayed myelination |
9.3% |
5/54 |
| Ventriculomegaly |
9.3% |
5/54 |
| Abnormality of the corpus callosum |
7.4% |
4/54 |
| Global brain atrophy |
7.4% |
4/54 |
| Widened subarachnoid space |
7.4% |
4/54 |
| Limbic malformations |
5.6% |
3/54 |
| Brain atrophy |
3.7% |
2/54 |
| Enlarged sylvian cistern |
3.7% |
2/54 |
| Epileptiform EEG discharges |
3.7% |
2/54 |
| Cerebral atrophy |
1.9% |
1/54 |
| Cerebellar gliosis |
1.9% |
1/54 |
| Cerebellar vermis hypoplasia |
1.9% |
1/54 |
| Cerebral cortical atrophy |
1.9% |
1/54 |
| Diffuse cerebral atrophy |
1.9% |
1/54 |
| EEG with focal epileptiform discharges |
1.9% |
1/54 |
| EEG with generalized epileptiform discharges |
1.9% |
1/54 |
| EEG with photoparoxysmal response |
1.9% |
1/54 |
| Enlarged cisterna magna |
1.9% |
1/54 |
| Frontotemporal cerebral atrophy |
1.9% |
1/54 |
| Gliosis |
1.9% |
1/54 |
| Hypsarrhythmia |
1.9% |
1/54 |
| Nonprogressive cerebellar ataxia |
1.9% |
1/54 |
| Perivascular spaces |
1.9% |
1/54 |
| Temporal cortical atrophy |
1.9% |
1/54 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
11.1% |
5/45 |
| Protruding ear |
4.4% |
2/45 |
| Low-set ears |
2.2% |
1/45 |
| Macrotia |
2.2% |
1/45 |
| Preauricular skin tag |
2.2% |
1/45 |
| Stenosis of the external auditory canal |
2.2% |
1/45 |
| Abnormality of the eye |
22.2% |
10/45 |
| Downslanted palpebral fissures |
4.4% |
2/45 |
| Prominent eyelashes |
4.4% |
2/45 |
| Small palpebral fissure |
4.4% |
2/45 |
| Thick eyebrow |
4.4% |
2/45 |
| Epicanthus |
2.2% |
1/45 |
| Hypertelorism |
2.2% |
1/45 |
| Ptosis |
2.2% |
1/45 |
| Telecanthus |
2.2% |
1/45 |
| Upslanted palpebral fissure |
2.2% |
1/45 |
| Abnormality of the nose |
31.1% |
14/45 |
| Wide nasal bridge |
11.1% |
5/45 |
| Broad nasal tip |
6.7% |
3/45 |
| Depressed nasal bridge |
6.7% |
3/45 |
| Bulbous nose |
4.4% |
2/45 |
| Prominent nose |
4.4% |
2/45 |
| Thick nasal alae |
4.4% |
2/45 |
| Abnormality of the nasal bridge |
2.2% |
1/45 |
| Depressed glabella |
2.2% |
1/45 |
| Prominent nasal bridge |
2.2% |
1/45 |
| Abnormality of the mouth |
29.5% |
13/44 |
| Widely spaced teeth |
9.1% |
4/44 |
| High palate |
6.8% |
3/44 |
| Thin upper lip vermilion |
6.8% |
3/44 |
| Broad alveolar ridges |
4.5% |
2/44 |
| Everted lower lip vermilion |
4.5% |
2/44 |
| Long philtrum |
4.5% |
2/44 |
| Thick lower lip vermilion |
4.5% |
2/44 |
| Bifid uvula |
2.3% |
1/44 |
| Broad philtrum |
2.3% |
1/44 |
| Cleft primary palate |
2.3% |
1/44 |
| Deep philtrum |
2.3% |
1/44 |
| Delayed eruption of permanent teeth |
2.3% |
1/44 |
| Furrowed tongue |
2.3% |
1/44 |
| Gingival overgrowth |
2.3% |
1/44 |
| Narrow palate |
2.3% |
1/44 |
| Short lingual frenulum |
2.3% |
1/44 |
| Thick vermilion border |
2.3% |
1/44 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
55.6% |
20/36 |
| Hearing impairment |
36.1% |
13/36 |
| Bilateral sensorineural hearing impairment |
5.6% |
2/36 |
| Hyperacusis |
2.8% |
1/36 |
| Sensorineural hearing impairment |
2.8% |
1/36 |
| Severe hearing impairment |
2.8% |
1/36 |
| Severe sensorineural hearing impairment |
2.8% |
1/36 |
| Tinnitus |
2.8% |
1/36 |
| Abnormal vision |
23.3% |
7/30 |
| Myopia |
10.0% |
3/30 |
| Cortical visual impairment |
6.7% |
2/30 |
| Esotropia |
3.3% |
1/30 |
| Ophthalmoplegia |
3.3% |
1/30 |
| Optic atrophy |
3.3% |
1/30 |
| Reduced visual acuity |
3.3% |
1/30 |
| Visual impairment |
3.3% |
1/30 |
| Heart |
|
|
| Abnormality of the heart |
44.4% |
4/9 |
| Cardiac arrest |
22.2% |
2/9 |
| Double outlet right ventricle |
11.1% |
1/9 |
| Patent foramen ovale |
11.1% |
1/9 |
| Pulmonary |
|
|
| Abnormality of the lungs |
66.7% |
6/9 |
| Respiratory failure |
22.2% |
2/9 |
| Abnormal pattern of respiration |
11.1% |
1/9 |
| Recurrent pneumonia |
11.1% |
1/9 |
| Respiratory infections in early life |
11.1% |
1/9 |
| Tachypnea |
11.1% |
1/9 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
61.3% |
19/31 |
| Feeding difficulties |
45.2% |
14/31 |
| Gastrostomy tube feeding in infancy |
6.5% |
2/31 |
| Feeding difficulties in infancy |
3.2% |
1/31 |
| Vomiting |
3.2% |
1/31 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
22.2% |
2/9 |
| Cryptorchidism |
11.1% |
1/9 |
| Hydronephrosis |
11.1% |
1/9 |
| Nephrocalcinosis |
11.1% |
1/9 |
| Skeleton |
|
|
| Skeletal abnormalities |
43.9% |
18/41 |
| Brachydactyly syndrome |
24.4% |
10/41 |
| Abnormality of finger |
7.3% |
3/41 |
| Triphalangeal thumb |
7.3% |
3/41 |
| Abnormality of toe |
4.9% |
2/41 |
| Aplasia of the distal phalanx of the 5th finger |
4.9% |
2/41 |
| Long hallux |
4.9% |
2/41 |
| Scoliosis |
4.9% |
2/41 |
| Absent epiphysis of the distal phalanx of the 4th toe |
2.4% |
1/41 |
| Absent epiphysis of the distal phalanx of the 3rd toe |
2.4% |
1/41 |
| Absent epiphysis of the distal phalanx of the 2nd toe |
2.4% |
1/41 |
| Absent epiphysis of the distal phalanx of the 5th finger |
2.4% |
1/41 |
| Absent epiphysis of the distal phalanx of the 5th toe |
2.4% |
1/41 |
| Aplasia/Hypoplasia of the distal phalanx of the 3rd finger |
2.4% |
1/41 |
| Aplasia/Hypoplasia of the distal phalanx of the 2nd finger |
2.4% |
1/41 |
| Aplasia of the distal phalanx of the 4th finger |
2.4% |
1/41 |
| Aplasia/Hypoplasia of the distal phalanges of the hand |
2.4% |
1/41 |
| Aplasia/Hypoplasia of the distal phalanx of the 4th finger |
2.4% |
1/41 |
| Aplasia of the distal phalanx of the 3rd finger |
2.4% |
1/41 |
| Clinodactyly of the 5th toe |
2.4% |
1/41 |
| Clinodactyly of the 4th toe |
2.4% |
1/41 |
| Opisthotonus |
2.4% |
1/41 |
| Short distal phalanx of finger |
2.4% |
1/41 |
| Short distal phalanx of the thumb |
2.4% |
1/41 |
| Small hand |
2.4% |
1/41 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
46.5% |
20/43 |
| Abnormality of the fingernails |
23.3% |
10/43 |
| Abnormality of the toenails |
20.9% |
9/43 |
| Absent toenail |
7.0% |
3/43 |
| Cyanosis |
7.0% |
3/43 |
| Hypoplastic toenails |
4.7% |
2/43 |
| Hypoplastic fingernail |
4.7% |
2/43 |
| Prominent fingertip pads |
4.7% |
2/43 |
| Thick hair |
4.7% |
2/43 |
| Absent thumbnail |
2.3% |
1/43 |
| Absent fifth fingernail |
2.3% |
1/43 |
| Absent fingernail |
2.3% |
1/43 |
| Aplastic/hypoplastic toenail |
2.3% |
1/43 |
| Capillary hemangiomas |
2.3% |
1/43 |
| Dystrophic toenail |
2.3% |
1/43 |
| Low anterior hairline |
2.3% |
1/43 |
| Nail dystrophy |
2.3% |
1/43 |
| Pallor |
2.3% |
1/43 |
| Supernumerary nipple |
2.3% |
1/43 |
| Synophrys |
2.3% |
1/43 |
| Thick eyebrow |
2.3% |
1/43 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
20.0% |
1/5 |
| Hypothyroidism |
20.0% |
1/5 |
| Abnormality of the metabolic system |
14.3% |
1/7 |
| Hyperammonemia |
14.3% |
1/7 |
| Abnormality of the immune system |
40.0% |
2/5 |
| Respiratory tract infection |
40.0% |
2/5 |