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Deafness-epiphyseal dysplasia-short stature syndrome
rareThis syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).
- Identifiers
- MONDO:0011047 OMIM:601351Orphanet:3218
- Part of
- Hereditary disease
- Also known as
- chitty-Hall-Baraitser syndrome · deafness, epiphyseal dysplasia, short stature · deafness, femoral epiphyseal dysplasia, short stature and developmental delay
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