Total: 18893 cases
1(69.6%)
MyGene2:2197
Fever Hemolytic anemia Splenomegaly
2(68.1%)
MyGene2:778
Anemia Fever Hepatosplenomegaly
3(67.9%)
DECIPHER:258291
Abnormal erythrocyte morphology Abnormality of the kidney Hepatomegaly Splenomegaly
4(64.8%)
DECIPHER:283601
Iron deficiency anemia Jaundice Low anterior hairline
DECIPHER:303677
Elevated hepatic transaminase Epicanthus Iron deficiency anemia Prolonged neonatal jaundice
6(61.9%)
MyGene2:288
Acanthocytosis Anemia Edema Malabsorption
7(61.3%)
DECIPHER:304646
Bruising susceptibility Iron deficiency anemia Low levels of vitamin D
8(59.9%)
MyGene2:2256
Iron deficiency anemia Neonatal hypoglycemia Telangiectasia
9(59.7%)
DECIPHER:370783
Anemia Cirrhosis Premature graying of hair
10(59.6%)
MyGene2:1904
Decreased plasma carnitine Increased size of nasopharyngeal adenoids Normochromic anemia Vomiting
11(59.4%)
UDN:058
Autoimmune hemolytic anemia Giant cell hepatitis Heavy proteinuria
12(59.0%)
UDN:048
Anemia Gastroesophageal reflux Hematuria Poor wound healing
13(58.2%)
DECIPHER:262933
Mandibular prognathia Periauricular skin pits Spherocytosis
14(57.8%)
UDN:069
Autoimmune hemolytic anemia Bruising susceptibility
15(57.2%)
DECIPHER:365856
Global developmental delay Hepatoblastoma Normochromic anemia
16(56.5%)
MyGene2:1671
Abnormality of metabolism/homeostasis Anemia Pallor Vomiting
17(55.6%)
UDN:020
Increased mean corpuscular volume Joint swelling Nausea and vomiting Poikiloderma
18(54.4%)
DECIPHER:340725
Bilateral single transverse palmar creases Macrocytic anemia Nasogastric tube feeding in infancy Wide mouth
19(53.5%)
DECIPHER:259934
Abnormal erythrocyte morphology Abnormality of the kidney Feeding difficulties in infancy Single transverse palmar crease
DECIPHER:274337
Gastroesophageal reflux Hypertelorism Polycythemia Preauricular skin tag