Alternative titles and symbols : Anophthalmia, clinical, with mild facial dysmorphism and variable malformations of
the lung, heart, and diaphragm; Anophthalmia/microphthalmia and pulmonary hypoplasia; Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect; Spear syndrome; Matthew-wood syndrome; Pulmonary agenesis, microphthalmia, and diaphragmatic defect; PDAC; PMD;
Included titles and symbols : Microphthalmia/coloboma 8; MCOPCB8;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the homolog of the mouse stimulated by retinoic acid-6 gene
(STRA6, 610745.0007);