Table 2 Frequency of main phenotypic findings in this study compared to previously published cases.
Phenotype | HPO | this cohort (n = 15) | literature (n = 13) | total (n = 28) |
|---|---|---|---|---|
Growth parameters/development | ||||
Short stature (+ growth retardation) | HP:0004322 | 7/15 | 2/6 | 9/21 |
Decreased body weight (+ poor weight gain) | HP:0004325 | 9/15 | 8/13 | 17/28 |
(borderline) microcephaly (< = − 2 SD at last clinical examination) | HP:0040196 | 4/10 | 0/4 | 4/14 |
Neurological findings | ||||
Global developmental delay, intellectual disability | HP:0001263, HP:0001249 | 15/15 | 13/13 | 28/28 |
Speech or motor regression | HP:0002376 | 6/10 | 1/5 | 7/15 |
Behavioural abnormalties (+ irritability) | HP:0000708 | 7/15 | 11/12 | 18/27 |
Brain abnormalties (dilated lateral ventricles, this corpus callosum, brain atrophy) | HP:0012443 | 5/11 | 7/9 | 12/20 |
Gait disturbance (ataxic, unbalanced) | HP:0002066 | 5/9 | 3/5 | 8/14 |
Movement disorder (dystonia, spasticity) | HP:0001332 | 4/14 | 9/11 | 13/25 |
Axial hypotonia | HP:0008936 | 12/15 | 11/12 | 23/27 |
Seizures, EEG abnormalties | HP:0001250, HP:0002353 | 11/15 | 9/12 | 20/27 |
Pulmonary findings | ||||
Respiratory distress in infancy | HP:0002098 | 2/15 | 9/13 | 11/28 |
Recurrent respiratory infections | HP:0002205 | 2/15 | 11/12 | 13/27 |
Interstitial changes on chest-CT | HP:0006530 | 0/1 | 7/9 | 7/10 |
Other symptoms | ||||
Hepatomegaly | HP:0002240 | 1/15 | 4/12 | 5/27 |
Diarrhea | HP:0002014 | 2/15 | 8/11 | 10/26 |
Cardiovascular abnormality | HP:0001626 | 2/15 | 3/13 | 5/28 |
Ophthalmologic findings (strabismus) | HP:0000486 | 3/14 | 5/13 | 8/27 |
Hematological system (anemia) | HP:0001903 | 2/15 | 8/13 | 10/28 |
Angiomatosis-like cerebral lesions (post-mortem examination) | HP:0009145 | 0/0 | 3/3 | 3/3 |
