SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome

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A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly severe global developmental delay and intellectual disability hypotonia respiratory insufficiency failure to thrive and congenital anomalies affecting the skeleton eyes and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead biparietal narrowing flat face hypertelorism arched eyebrows short upslanting palpebral fissures wide nasal bridge small upturned nose forward facing ears and micrognathia. Brain imaging shows structural abnormalities in all patients.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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