| Gender |
|
|
| Male |
42.9% |
9/21 |
| Female |
57.1% |
12/21 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/21 |
| Birth Weight abnormalities |
0% |
0/21 |
| Birth Head circumference abnormalities |
0% |
0/21 |
| Current Height abnormalities |
85.7% |
18/21 |
| < P3 : Short stature |
85.7% |
18/21 |
| Current Weight abnormalities |
52.4% |
11/21 |
| < P3 : Decreased body weight |
52.4% |
11/21 |
| Current Head circumference abnormalities |
76.2% |
16/21 |
| < P3 : Microcephaly |
76.2% |
16/21 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
21/21 |
| Muscular hypotonia |
42.9% |
9/21 |
| Muscle weakness |
33.3% |
7/21 |
| Gait disturbance |
28.6% |
6/21 |
| Pes cavus |
28.6% |
6/21 |
| Hyperreflexia |
23.8% |
5/21 |
| Spasticity |
23.8% |
5/21 |
| Areflexia |
19.0% |
4/21 |
| Hyporeflexia |
19.0% |
4/21 |
| Ataxia |
14.3% |
3/21 |
| Hammertoe |
14.3% |
3/21 |
| Sensorimotor neuropathy |
14.3% |
3/21 |
| Broad-based gait |
9.5% |
2/21 |
| Dystonia |
9.5% |
2/21 |
| Elevated serum creatine phosphokinase |
9.5% |
2/21 |
| Intention tremor |
9.5% |
2/21 |
| Scoliosis |
9.5% |
2/21 |
| Seizures |
9.5% |
2/21 |
| Tremor |
9.5% |
2/21 |
| Absence seizures |
4.8% |
1/21 |
| Action tremor |
4.8% |
1/21 |
| Dysmetria |
4.8% |
1/21 |
| Exotropia |
4.8% |
1/21 |
| Flexion contracture |
4.8% |
1/21 |
| Foot dorsiflexor weakness |
4.8% |
1/21 |
| Gait imbalance |
4.8% |
1/21 |
| Generalized hypotonia |
4.8% |
1/21 |
| Hyperlordosis |
4.8% |
1/21 |
| Hyporeflexia of lower limbs |
4.8% |
1/21 |
| Involuntary jerking movements |
4.8% |
1/21 |
| Kyphosis |
4.8% |
1/21 |
| Limb hypertonia |
4.8% |
1/21 |
| Limb muscle weakness |
4.8% |
1/21 |
| Lower limb hyperreflexia |
4.8% |
1/21 |
| Motor axonal neuropathy |
4.8% |
1/21 |
| Muscular hypotonia of the trunk |
4.8% |
1/21 |
| Paresthesia |
4.8% |
1/21 |
| Peripheral axonal neuropathy |
4.8% |
1/21 |
| Proximal muscle weakness |
4.8% |
1/21 |
| Resting tremor |
4.8% |
1/21 |
| Sensory neuropathy |
4.8% |
1/21 |
| Skeletal muscle atrophy |
4.8% |
1/21 |
| Toe walking |
4.8% |
1/21 |
| Velopharyngeal insufficiency |
4.8% |
1/21 |
| Behavioral problems |
20.0% |
1/5 |
| Autism |
20.0% |
1/5 |
| Brain abnormality |
68.4% |
13/19 |
| Abnormality of the cerebral white matter |
26.3% |
5/19 |
| Cerebral atrophy |
26.3% |
5/19 |
| Cerebellar atrophy |
15.8% |
3/19 |
| Abnormality of the basal ganglia |
10.5% |
2/19 |
| Delayed myelination |
10.5% |
2/19 |
| Focal T2 hyperintense basal ganglia lesion |
10.5% |
2/19 |
| Ventriculomegaly |
10.5% |
2/19 |
| Cavitation of the basal ganglia |
5.3% |
1/19 |
| CNS hypomyelination |
5.3% |
1/19 |
| Cortical dysplasia |
5.3% |
1/19 |
| Dilation of lateral ventricles |
5.3% |
1/19 |
| Facial abnormalities |
|
|
| Abnormality of the eye |
71.4% |
15/21 |
| Ptosis |
4.8% |
1/21 |
| Abnormality of the mouth |
15.8% |
3/19 |
| Abnormality of the tongue |
5.3% |
1/19 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
55.0% |
11/20 |
| Sensorineural hearing impairment |
45.0% |
9/20 |
| Hearing impairment |
10.0% |
2/20 |
| Conductive hearing impairment |
5.0% |
1/20 |
| Abnormal vision |
47.6% |
10/21 |
| Esotropia |
9.5% |
2/21 |
| Abnormality of retinal pigmentation |
4.8% |
1/21 |
| Heterochromia iridis |
4.8% |
1/21 |
| Macular degeneration |
4.8% |
1/21 |
| Myopia |
4.8% |
1/21 |
| Pigmentary retinopathy |
4.8% |
1/21 |
| Pigmentary retinal deposits |
4.8% |
1/21 |
| Ptosis |
4.8% |
1/21 |
| Retinal dystrophy |
4.8% |
1/21 |
| Strabismus |
4.8% |
1/21 |
| Heart |
|
|
| Abnormality of the heart |
10.5% |
2/19 |
| Tetralogy of Fallot |
5.3% |
1/19 |
| Wolff-Parkinson-White syndrome |
5.3% |
1/19 |
| Pulmonary |
|
|
| Abnormality of the lungs |
5.3% |
1/19 |
| Respiratory failure |
5.3% |
1/19 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
25.0% |
5/20 |
| Gastroesophageal reflux |
15.0% |
3/20 |
| Constipation |
10.0% |
2/20 |
| Feeding difficulties in infancy |
10.0% |
2/20 |
| Esophagitis |
5.0% |
1/20 |
| Gallbladder dysfunction |
5.0% |
1/20 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
5.3% |
1/19 |
| Duplicated collecting system |
5.3% |
1/19 |
| Skeleton |
|
|
| Skeletal abnormalities |
25.0% |
5/20 |
| Broad toe |
10.0% |
2/20 |
| Clinodactyly of the 5th finger |
5.0% |
1/20 |
| Clinodactyly |
5.0% |
1/20 |
| Pectus excavatum |
5.0% |
1/20 |
| Proximal placement of thumb |
5.0% |
1/20 |
| Sandal gap |
5.0% |
1/20 |
| Short toe |
5.0% |
1/20 |
| Small hand |
5.0% |
1/20 |
| Toe clinodactyly |
5.0% |
1/20 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
15.0% |
3/20 |
| Cutis marmorata |
5.0% |
1/20 |
| Hirsutism |
5.0% |
1/20 |
| Hypopigmentation of the skin |
5.0% |
1/20 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
52.6% |
10/19 |
| Precocious puberty |
21.1% |
4/19 |
| Growth hormone deficiency |
15.8% |
3/19 |
| Hypothyroidism |
15.8% |
3/19 |
| Delayed puberty |
5.3% |
1/19 |
| Polycystic ovaries |
5.3% |
1/19 |
| Premature thelarche |
5.3% |
1/19 |
| Vitamin D deficiency |
5.3% |
1/19 |
| Abnormality of the metabolic system |
5.3% |
1/19 |
| Lactic acidosis |
5.3% |
1/19 |
| Abnormality of the immune system |
5.3% |
1/19 |
| Neutropenia |
5.3% |
1/19 |