Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 25-11-2013

Symbol	PAMD2
Location	3p24.2
Name	pulmonary agenesis, microphthalmia, and diaphragmatic defect 2
Other name(s)	syndromic microphthalmia-12
Corresponding gene	RARB
Other symbol(s)	MCOPS12, PDAC2
Main clinical features	bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia, who also exhibited mild facial dysmorphism with broad nasal root and tip and micrognathia
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	eye
	respiratory
Type	disease

Remark(s)