Disorders

Syndromic Microphthalmia 6

Synonym(s): Anophthalmia, Clinical, with Micrognathia, Malformed Ears, Digital Anomalies, and Abnormal External Genitalia, Microphthalmia And Pituitary Anomalies, Microphthalmia with Brain And Digit Developmental Anomalies

OMIM

Gene	Locus	Protein
BMP4	14q22-q23	Bone morphogenetic protein 4

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France	• Sequence analysis of the entire coding region

^* 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.