Orphanet: Micrognathia recurrent infections behavioral abnormalities mild intellectual disability syndrome

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Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others.

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Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

ORPHA:476126

A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

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