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Total: 18893 cases


(per page)

Rank
(Similarity)
Case
Matched Phenotype  Matched Gene 

140
(41.1%)

DECIPHER:258333

Abnormal erythrocyte morphology Macrocephaly Recurrent infections

142
(41.0%)

DECIPHER:294847

Asplenia

142
(41.0%)

DECIPHER:275663

Accessory spleen Ventricular septal defect

142
(41.0%)

DECIPHER:274895

Abdominal situs inversus Aplasia/Hypoplasia of the spleen

142
(41.0%)

DECIPHER:300177

Aplasia/Hypoplasia of the spleen Ventricular septal defect

142
(41.0%)

DECIPHER:258872

Polysplenia Renal dysplasia

142
(41.0%)

MyGene2:2218

Asplenia Pulmonic stenosis

142
(41.0%)

DECIPHER:251094

Ectopia of the spleen Horseshoe kidney

142
(41.0%)

DECIPHER:359803

Asplenia Pulmonic stenosis

142
(41.0%)

DECIPHER:267974

Asplenia Ectopic kidney

142
(41.0%)

UDN:084

Accessory spleen Choanal stenosis

152
(40.9%)

MyGene2:603

Abnormality of the spleen

152
(40.9%)

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

156
(40.7%)

DECIPHER:289304

Cholestasis

156
(40.7%)

DECIPHER:366566

Hearing abnormality Intrahepatic cholestasis with episodic jaundice

156
(40.7%)

DECIPHER:276675

Cholestasis Decreased response to growth hormone stimuation test

156
(40.7%)

DECIPHER:259151

Intrahepatic cholestasis Unilateral renal agenesis