Term Name: oocyte/zygote/embryo maturation arrest 4
Synonyms: female infertility due to oocyte meiotic arrest., oocyte maturation defect 4, OOMD4, OZEMA4
Definition: An oocyte/zygote/embryo maturation arrest that is characterized by phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest and that has_material_basis_in homozygous or compound heterozygous mutation in the PATL2 gene on chromosome 15q21.1.
Ontology: Human Disease [DOID:0061306]   ( DOID:0061306 )

Relationships
is a type of: autosomal recessive disease oocyte/zygote/embryo maturation arrest