Orphanet: Intellectual disability seizures abnormal gait facial dysmorphism syndrome

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Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, seizures, abnormal gait, and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva, and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems, and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles.

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Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

ORPHA:513456

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

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