181
(38.4%)

DECIPHER:264693

Elevated hepatic transaminase Hypoglycemia Progeroid facial appearance Wide anterior fontanel

181
(38.4%)

UDN:018

Ovarian cyst Peritonitis Pleural effusion Poor wound healing

183
(38.1%)

DECIPHER:339315

Acute lymphoblastic leukemia Cafe-au-lait spot Macrocephaly

183
(38.1%)

DECIPHER:259407

Hypermetropia Neutropenia Single transverse palmar crease

183
(38.1%)

DECIPHER:282154

Atypical scarring of skin Hypercoagulability Macrocephaly Recurrent infections

183
(38.1%)

DECIPHER:263254

Ichthyosis Microcephaly Neutropenia

187
(38.1%)

DECIPHER:260589

Abnormal cardiac ventricle morphology Microcephaly Preauricular skin tag Thrombocytopenia

188
(38.0%)

MyGene2:211

Cystic hygroma Diarrhea Neutropenia Recurrent skin infections

188
(38.0%)

DECIPHER:271847

Abnormal intestine morphology Abnormality of the skin Neutropenia in presence of anti-neutropil antibodies

188
(38.0%)

DECIPHER:3463

Atopic dermatitis Autism Constipation Thrombocytosis

191
(37.8%)

MyGene2:1244

Bifid uvula Highly arched eyebrow Malabsorption Thrombocytopenia

191
(37.8%)

DECIPHER:303613

Constipation Functional abnormality of the bladder Hyperhidrosis Menorrhagia

191
(37.8%)

MyGene2:426

Abnormal intestine morphology Ambiguous genitalia Hypohidrosis Myelodysplasia

194
(37.6%)

DECIPHER:266045

Edema Jejunal atresia T lymphocytopenia

194
(37.6%)

MyGene2:1381

Decreased circulating antibody level Dysphagia Neutropenia

194
(37.6%)

MyGene2:336

Hyperinsulinemic hypoglycemia Melena Vomiting

194
(37.6%)

UDN:046

Epistaxis Gastroesophageal reflux Hypoglycemia

198
(37.5%)

DECIPHER:251238

Abnormal erythrocyte morphology Pleural effusion Thin upper lip vermilion

199
(37.3%)

DECIPHER:258859

Intrahepatic biliary dysgenesis Renal dysplasia

199
(37.3%)

DECIPHER:338641

Intrahepatic biliary atresia Microcephaly