Rubinstein-Taybi syndrome

Orpha code: 783OMIM code: 613684

Definicja

A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Broad thumb-hallux syndrome
Broad thumbs-halluces syndrome
Kod ORPHA
783
Kod OMIM
613684
Kod ICD10
Q87.2
Kod ICD11
LD2F.1Y

No additional description.

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