Intellectual disability-expressive aphasia-facial dysmorphism syndrome

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Intellectual disability-expressive aphasia-facial dysmorphism syndrome

Synonyms: Intellectual disability-loss of expressive language-facial dysmorphism syndrome

A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face straight eyebrows and less frequently low-set ears and café-au-lait spots). Additional variably observed features include motor delays behavioral difficulties and seizures.

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 http: // Data version September 2023.

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