What is MICROPHTHALMIA, SYNDROMIC 9 (MCOPS9)?

very rare autosomal recessive mutation in the STRA6 gene

Which enzymes are involved?

Receptor for retinol uptake STRA6

Disease	MICROPHTHALMIA, SYNDROMIC 9 (MCOPS9)
Synonym	MATTHEW-WOOD SYNDROME; SPEAR SYNDROME
OMIM	601186 OMIM = Online Mendelian Inheritance of Men
Orphanet	2470
Protein (UniProt)	Receptor for retinol uptake STRA6
Gene locus	15q24.1
ICD	Q11.2
Summary	very rare autosomal recessive mutation in the STRA6 gene
Laboratory findings
Symptoms	atrial septal defect cleft eyelid (coloboma) congenital heart defect cryptorchism defect of trunk muscle, diaphragm or hiatus hernia dysmorphism early death hydronephrosis hypotonia inguinal hernia intrauterine growth retardation kidney, dysplastic, hypoplastic mental retardation microphthalmus onset, fetus onset, neonatal pulmonary hypertension pulmonary hypoplasia pulmonary valve, stenosis respiratory insufficiency short stature valvular heart disease ventricular septal defect