Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1

Definition

An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.

Also known as ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1, EEC syndrome 1, EEC syndrome-1, EEC1 — per MONDO

Also identified as

• DOID 0060784 per MONDO
• MESH C565062 per MONDO
• OMIM 129900 per MONDO
• UMLS C1851841 per MONDO