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 findingsCases

01Failure to thrive81
02Seizure/convulsion37
03Hearing disability28
04Dysmorphic facial features25
05Abnormal urine odor20
06Eye movement obstacles19
07Vomitting18
08Hair depigmentation15
09Microcephaly11
10Skin abnormalities10
11Hepato/splenomegaly10
12Impaired swallowing and chewing5
13Fondus ocili abnormalities4
14Vision problem4
15Abnormal lens3
16Genitalia malformation3
17Metabolic acidosis46
18Hyperammonemia12
19Abnormal EEG22
20Skeleton abnormality on X ray5
21CT/MRI abnormal findings85