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

Orpha code: 476126OMIM code: 617061

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.

Disease data
Classification

Malformation syndrome

ORPHA code
476126
OMIM code
617061
ICD10 code
-
ICD11 code
-

No additional description.

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