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Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities

Synonyms
EL-HATTAB-SCHMIDTS SYNDROME

Summary

Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA) is an autosomal recessive neurologic syndrome characterized by global developmental delay with severely impaired intellectual development, hypotonia and muscle weakness, often resulting in the inability to walk or sit, and characteristic coarse facial features. Additional features include feeding difficulties, respiratory distress, scoliosis, poor visual function, and rotary nystagmus. Brain imaging shows variable abnormalities, including enlarged ventricles, decreased white matter volume, white matter changes, thin corpus callosum, and cerebellar hypoplasia (summary by Loddo et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CCDC128, FERRY2, Fy-2, KLRAQ1, NEDHFBA, PPP1R21
    Summary: protein phosphatase 1 regulatory subunit 21

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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