Global developmental delay-microcephaly-at…

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Global developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndrome

ORPHA:730327Malformation syndrome

Also called NARS1-related neurodevelopmental disorder

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Malformation syndrome

Gene

NARS1Disease-causing germline mutation(s)

Cross-references

OMIM 619091OMIM 619092

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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