Total: 18893 cases
156(40.7%)
DECIPHER:301263
Cholestasis Cryptorchidism
DECIPHER:285915
Cholestasis Inguinal hernia
MyGene2:2148
Cholestasis Macrocephaly
164(40.3%)
DECIPHER:273894
Cerebral venous thrombosis Cryptorchidism Patent ductus arteriosus after birth at term Single transverse palmar crease
MyGene2:1141
Inguinal hernia Neutropenia Prominent fingertip pads Right aortic arch
166(40.2%)
UDN:009
Acne Epistaxis Gastroesophageal reflux Pleural effusion
167(40.0%)
DECIPHER:307080
Absent gallbladder Hyperinsulinemia Renal agenesis
MyGene2:2241
Biliary atresia Conjugated hyperbilirubinemia Mixed hearing impairment
169(39.4%)
DECIPHER:299694
Feeding difficulties in infancy Hypoplastic male external genitalia Increased number of skin folds Neutropenia
170(39.4%)
DECIPHER:248905
Abnormal abdomen morphology Malar flattening Redundant neck skin
171(39.2%)
DECIPHER:296443
Coarctation of aorta Cryptorchidism Galactose intolerance Gastroesophageal reflux
172(39.0%)
DECIPHER:316705
Constipation Seizure Vitamin B12 deficiency
173(38.9%)
DECIPHER:275221
Abnormality of vitamin D metabolism Gastroesophageal reflux Hydrocephalus
174(38.9%)
DECIPHER:303873
Antenatal intracerebral hemorrhage Inflammatory abnormality of the skin Progressive microcephaly
175(38.7%)
MyGene2:1246
Highly arched eyebrow Pulmonary artery stenosis Sensorineural hearing impairment Thrombocytopenia
MyGene2:1205
Hydrocephalus Intraventricular hemorrhage Patent ductus arteriosus Sparse lateral eyebrow
177(38.6%)
DECIPHER:285787
Cyanosis Delayed speech and language development Pulmonary arterial hypertension
178(38.4%)
DECIPHER:290732
Fructose intolerance Gastroesophageal reflux Triangular face
DECIPHER:294633
Abnormality of amino acid metabolism Constipation Intellectual disability
DECIPHER:294635
Abnormality of amino acid metabolism Brachycephaly Constipation