156
(40.7%)

DECIPHER:301263

Cholestasis Cryptorchidism

156
(40.7%)

DECIPHER:285915

Cholestasis Inguinal hernia

156
(40.7%)

MyGene2:2148

Cholestasis Macrocephaly

164
(40.3%)

DECIPHER:273894

Cerebral venous thrombosis Cryptorchidism Patent ductus arteriosus after birth at term Single transverse palmar crease

164
(40.3%)

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

167
(40.0%)

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

175
(38.7%)

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

178
(38.4%)

DECIPHER:294633

Abnormality of amino acid metabolism Constipation Intellectual disability

178
(38.4%)

DECIPHER:294635

Abnormality of amino acid metabolism Brachycephaly Constipation