Ring chromosome 22 syndrome

Orpha code: 1446OMIM code:

Definition

Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.

Disease data
Classification

Malformation syndrome

Synonyms
Ring 22
Ring chromosome 22
r(22) syndrome
ORPHA code
1446
OMIM code
-
ICD10 code
Q93.2
ICD11 code
-

No additional description.

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