Paternal 20q13.2q13.3 microdeletion syndrome

Orpha code: 261304OMIM code:

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.

Disease data
Classification

Malformation syndrome

Synonyms
Paternal del(20)(q13.2q13.3)
Monosomia ojcowska 20q13.2q13.3
Monosomia ojcowska 20q13.2-q13.3
Ojcowska del(20)(q13.2q13.3)
Zespół mikrodelecji ojcowskiej 20q13.2-q13.3
Paternal monosomy 20q13.2q13.3
ORPHA code
261304
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl