Ring chromosome 18 syndrome

Orpha code: 1442OMIM code:

Definicja

Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Ring 18
Ring chromosome 18
Kod ORPHA
1442
Kod OMIM
-
Kod ICD10
Q93.2
Kod ICD11
-

No additional description.

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