20q11.2 microdeletion syndrome

Orpha code: 444051OMIM code:

Definicja

A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Del(20)(q11.2)
Del(20)(q11.2)
Monosomia 20q11
Monosomy 20q11
Kod ORPHA
444051
Kod OMIM
-
Kod ICD10
Q93.5
Kod ICD11
-

No additional description.

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