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 muscle weakness |
4.8% |
1/21 |
Limb hypertonia |
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 retinal deposits |
4.8% |
1/21 |
Pigmentary retinopathy |
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 |
5.0% |
1/20 |
Clinodactyly of the 5th finger |
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 |