Table 5. Category of the related diseases and the distribution of the clinical synopses.

Disease Category	Percentage	Clinical Symptoms	Number
Inherited metabolic disease	10.73	Seizures	197
Cancer	6.11	Mental retardation	183
Nervous system disease	4.62	Hypotonia	150
Developmental disorder	4.47	Developmental delay	94
Hematologic disease	4.02	Hearing loss	86
Skeletal dysplasia	3.43	Vomiting	74
Infectious disease	3.13	Diarrhea	66
Skin and connective tissue disease	3.13	Cataracts	56
Primary immunodeficiency	2.98	Fever	46
Immune system disease	2.68	Fatigue	36
Neurodegenerative disease	1.79	Hypoglycemia	36
Endocrine disease	1.49	Headache	21
Kidney disease	1.49	Cough	20