Intellectual disability, Birk-Barel type

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Intellectual disability, Birk-Barel type

Synonyms: Intellectual disability-hypotonia-facial dysmorphism syndrome

Intellectual disability Birk-Barel type is a rare genetic syndromic intellectual disability characterized by congenital central hypotonia developmental delay moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly myopathic facies ptosis short and broad philtrum tented upper lip vermillion palatal anomalies mild micro- and/or retrognathia). Patients present reduced facial movements lethargy weak cry transient neonatal hypoglycemia severe feeding difficulties and failure to thrive. Dysphagia particularly of solid food asthenic body build joint contractures and scoliosis are additional features.

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://www.orphadata.org. Data version April 2024

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