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

GeneLocusProtein
BMP414q22-q23Bone morphogenetic protein 4

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany  
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France  

* 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.

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