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GENATLAS PHENOTYPE

last update : 07-11-2023

Symbol	DIH4
Location	15q21.3
Name	diaphragmatic hernia 4 with cardiovascular defects
Corresponding gene	ALDH1A2
Main clinical features	congenital anomaly syndrome characterized by the presence of diaphragmatic hernia or eventration apparent at birth with associated pulmonary hypoplasia and respiratory insufficiency resulting in death in infancy also variable cardiovascular defects, including aortopulmonary window or conotruncal anomalies; also dysmorphic facial features and mild distal limb anomalies are sometimes observed
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	respiratory
Type	disease

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