221
(36.5%)

DECIPHER:276525

Neutropenia in presence of anti-neutropil antibodies Synophrys Thin vermilion border

221
(36.5%)

DECIPHER:278429

Abnormal retinal morphology Nail dysplasia Neutropenia

223
(36.5%)

MyGene2:1216

Horseshoe kidney Perimembranous ventricular septal defect Sparse lateral eyebrow Thrombocytopenia

223
(36.5%)

DECIPHER:285746

Abnormality of upper lip Epistaxis Long eyelashes Ventricular septal defect

223
(36.5%)

UDN:023

Brittle scalp hair Menorrhagia Mitral valve prolapse

226
(36.4%)

DECIPHER:292674

Dysphagia Microcephaly Subdural hemorrhage

226
(36.4%)

DECIPHER:263789

Aortic root aneurysm Autoimmune thrombocytopenia Myopia Umbilical hernia

226
(36.4%)

MyGene2:2125

Dysphagia Eosinophilia Motor delay Patent ductus arteriosus

226
(36.4%)

MyGene2:400

Cleft palate Dysphagia Hematochezia Stroke

230
(36.3%)

DECIPHER:296353

Abnormality of the tonsils Eczema Unilateral renal agenesis

231
(36.2%)

DECIPHER:304568

Abnormality of skin pigmentation Hypogonadotropic hypogonadism Low levels of vitamin D

232
(36.2%)

DECIPHER:332523

Anemia of inadequate production

232
(36.2%)

DECIPHER:331540

Delayed speech and language development Increased red cell sickling tendency

232
(36.2%)

DECIPHER:294958

Hemolytic anemia

232
(36.2%)

MyGene2:171

Anemia Growth delay

232
(36.2%)

DECIPHER:278622

Hemolytic anemia

232
(36.2%)

DECIPHER:281360

Iron deficiency anemia

232
(36.2%)

DECIPHER:327340

Normocytic anemia

232
(36.2%)

MyGene2:447

Hemolytic anemia Thrombocytopenia

232
(36.2%)

DECIPHER:371016

Macrocytic anemia Microcephaly