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GTR Home > Conditions/Phenotypes > Glutamate pyruvate transaminase 2 deficiency

Glutamate pyruvate transaminase 2 deficiency

Synonyms
Neurodevelopmental disorder with microcephaly and spastic paraplegia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Neurodevelopmental disorder with spastic paraplegia and microcephaly (NEDSPM) is an autosomal recessive neurologic syndrome characterized by delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech. More severely affected individuals show poor overall growth with progressive microcephaly, axial hypotonia, oromotor dysfunction with drooling, joint contractures, and spastic paraplegia resulting in walking difficulties. Some patients may develop seizures; nonspecific dysmorphic features have also been reported (summary by Hengel et al., 2018 and Ouyang et al., 2019). [from OMIM]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALT2, GPT 2, MRT49, NEDSPM, GPT2
    Summary: glutamic--pyruvic transaminase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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