Table 3 Clinical characteristics
Characteristics | N (%) | Charicteristics | N (%) |
|---|---|---|---|
Genetic disorders | Â | Abnormal Brain MRI | 48/70 (68.5) |
  Neurodevelopmental Disordrers | 32/81 (39.5) | Visual impairment | 10/78 (12.8) |
  Metabolism disorders | 20/81 (24.7) | Hearing loss | 4/78 (5.0) |
  Genetic epilepsy | 17/81 (21.0) | Facial anomalies | 14/81 (17.2) |
  Leukodystrophy | 5/81 (6.2) | Head circumference anomaly | 24/81 (30) |
  Other neurogenetic diseases | 7/81 (8.4) |   Microcephaly | 17/81 (20.9) |
Disease courses | Â | Â Â Macrocephaly | 7/81 (8.6) |
   Static | 54/81 (66.6) | Weight | 13/50 (26) |
   Progressive | 13/81 (16.0) |   Overweight | 1/50 (2) |
   Unknown | 14/81 (17.2) |   Low weight | 12/50 (24) |
Severity of GDD/ID | Â | Short stature | 5/48 (10.4) |
   Mild-moderate | 15/67 (22.4) | Organ involvement | 13/81 (16) |
   Severe-profound | 52/67 (77.6) |   Heart | 5/80 (6.0) |
   Unknown | 14 |   Liver | 3/80 (4.0) |
 Epilepsy | 47/81 (58.0) |   Kidney | 1/80 (1.0) |
Epilepsy type | Â | Â Â Hair/skin | 3/79 (3.8) |
   Focal | 7/47 (14.9) |   Bone | 2/79 (2.5) |
   Generalized | 16/47 (34.0) |   Endocrine | 1/81 (1.2) |
   Combined | 14/47 (29.8) | Positive family history | 5/80 (6.0) |
   Unknown | 10/47 (21.3) | Abnormal antenatal ultrasound | 10/80 (12.5) |
Autism spectrum disorder | 8/80 (10.0) | Abnormal birth history | 4/80 (5) |