Disorders

Hamamy Syndrome

Synonym(s): HMMS, Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility

Gene	Locus	Protein
IRX5	16q12.2	Iroquois-class homeodomain protein IRX-5

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.