paternal 20q13.2q13.3 microdeletion syndrome

Rare Disease

MONDO:0016842

Also Known As

paternal 20q13.2-q13.3 microdeletion syndromepaternal del(20)(q13.2q13.3)paternal monosomy 20q13.2-q13.3paternal monosomy 20q13.2q13.3

Definition

Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.