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

4
(64.8%)

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

19
(53.5%)

DECIPHER:274337

Gastroesophageal reflux Hypertelorism Polycythemia Preauricular skin tag