microphthalmia, syndromic 9
A syndromic microphthalmiae in which the cause of the disease is a mutation in the STRA6 gene. It is characterized by microphthalmia or anophthalmia, and variable features including including intellectual disability, pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration and congenital heart disease.
MONDO:0015221
obsolete non-syndromic respiratory or mediastinal malformation (obsolete MONDO:0015221)
excluded_subClassOf
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0015929
thoracic malformation
is_a
MONDO:0016073
syndromic microphthalmia
is_a
MCOPS9
exact
Matthew Wood syndrome
exact
Matthew-Wood syndrome
exact
STRA6-related syndromic microphthalmia
exact
Spear syndrome
exact
anophthalmia-pulmonary hypoplasia syndrome
exact
clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
exact
microphthalmia syndromic 9
exact
pulmonary agenesis microphthalmi and diaphragmatic defect
exact