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GTR Home > Conditions/Phenotypes > Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

Summary

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BERF-1, BFCOL1, GDACCF, HT-BETA, ZBP-89, ZFP148, pHZ-52, ZNF148
    Summary: zinc finger protein 148

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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