20q11.2 microdeletion syndrome

Orpha code: 444051OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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