microcephaly-seizures-intellectual disability-heart disease syndrome

Rare Disease

MONDO:0016719

Also Known As

microcephaly seizures intellectual disability heart disordersmicrocephaly seizures mental retardation heart disordersmicrocephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalitiesmicrocephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities

Definition

Microcephaly-seizures-intellectual disability-heart disease syndrome is characterized by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.