Ring chromosome 1 syndrome

Orpha code: 1437OMIM code:

Definicja

Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Ring 1
Ring chromosome 1
r(1) syndrome
Kod ORPHA
1437
Kod OMIM
-
Kod ICD10
Q93.2
Kod ICD11
-

No additional description.

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