" /> Microphthalmia, syndromic 9 - CISMeF





Preferred Label : Microphthalmia, syndromic 9;

Symbol : MCOPS9;

CISMeF acronym : MCOPCB8; MCOPS9; PDAC; PMD;

Type : Phenotype, molecular basis known;

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);

Prefixed ID : #601186;

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29/07/2025


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