Research Article
Etiological Analysis of Neurodevelopmental Disabilities: Single-Center Eight-Year Clinical Experience in South China
Table 1
Main clinical manifestations besides NDDs and the positive laboratory and imaging findings in syndromic NDDs.
| | No. | Positive findings | Cases |
| | 01 | Failure to thrive | 81 | | 02 | Seizure/convulsion | 37 | | 03 | Hearing disability | 28 | | 04 | Dysmorphic facial features | 25 | | 05 | Abnormal urine odor | 20 | | 06 | Eye movement obstacles | 19 | | 07 | Vomitting | 18 | | 08 | Hair depigmentation | 15 | | 09 | Microcephaly | 11 | | 10 | Skin abnormalities | 10 | | 11 | Hepato/splenomegaly | 10 | | 12 | Impaired swallowing and chewing | 5 | | 13 | Fondus ocili abnormalities | 4 | | 14 | Vision problem | 4 | | 15 | Abnormal lens | 3 | | 16 | Genitalia malformation | 3 | | 17 | Metabolic acidosis | 46 | | 18 | Hyperammonemia | 12 | | 19 | Abnormal EEG | 22 | | 20 | Skeleton abnormality on X ray | 5 | | 21 | CT/MRI abnormal findings | 85 |
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