Ring chromosome 11 syndrome

Orpha code: 96175OMIM code:

Definicja

Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
RC11
Ring 11
Ring chromosome 11
r(11) syndrome
RC11
Ring 11
Ring chromosome 11
r(11) syndrome
Kod ORPHA
96175
Kod OMIM
-
Kod ICD10
Q93.2
Kod ICD11
-

No additional description.

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