Ring chromosome 22 syndrome

Orpha code: 1446OMIM code:

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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