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Say-Barber-Miller syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported.
ORPHA:3132
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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- Research project(s) (56)
- Clinical trial(s) (1)
- Biobank(s) (13)
- Registry(ies) (34)
- Network of experts (10)
Newborn screening