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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities

Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities

Summary

Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities (NEDMSBA) is an autosomal recessive disorder characterized by global developmental delay, hypotonia, delayed or absent walking, impaired intellectual development, and poor or absent speech, apparent from early infancy. Affected individuals have postnatal progressive microcephaly and may show poor overall growth and dysmorphic facial features. Additional more variable features include cortical visual impairment, seizures, hypotonia, spasticity, and sensorineural deafness. Brain imaging is abnormal in most patients, showing myelination defects, cortical atrophy, or thin corpus callosum. There is phenotypic variability, even within families (Bogershausen et al., 2022; Lin et al., 2022). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GAMMA-2, HMN9, HMND9, IFI53, IFP53, NEDMSBA, WARS, WARS1
    Summary: tryptophanyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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