Total: 18893 cases
140(41.1%)
DECIPHER:258333
Abnormal erythrocyte morphology Macrocephaly Recurrent infections
142(41.0%)
DECIPHER:294847
Asplenia
DECIPHER:275663
Accessory spleen Ventricular septal defect
DECIPHER:274895
Abdominal situs inversus Aplasia/Hypoplasia of the spleen
DECIPHER:300177
Aplasia/Hypoplasia of the spleen Ventricular septal defect
DECIPHER:258872
Polysplenia Renal dysplasia
MyGene2:2218
Asplenia Pulmonic stenosis
DECIPHER:251094
Ectopia of the spleen Horseshoe kidney
DECIPHER:359803
DECIPHER:267974
Asplenia Ectopic kidney
UDN:084
Accessory spleen Choanal stenosis
152(40.9%)
MyGene2:603
Abnormality of the spleen
DECIPHER:288294
Abnormality of the adrenal glands Abnormality of the spleen
154(40.8%)
DECIPHER:301011
Fetal cystic hygroma Patent ductus arteriosus Synophrys Thrombocytopenia
155(40.7%)
DECIPHER:1480
Cutaneous photosensitivity Microcephaly T lymphocytopenia
156(40.7%)
DECIPHER:289382
Cholestasis Hearing impairment
DECIPHER:289304
Cholestasis
DECIPHER:366566
Hearing abnormality Intrahepatic cholestasis with episodic jaundice
DECIPHER:276675
Cholestasis Decreased response to growth hormone stimuation test
DECIPHER:259151
Intrahepatic cholestasis Unilateral renal agenesis