Features include always present findings: Peripheral axonal neuropathy and Delayed speech and language development; and common findings: Kyphoscoliosis, Distal amyotrophy, Global developmental delay, and Ataxia and others. 10 total HPO annotations.

NEMF encodes nuclear export mediator factor (1,076 aa). Key component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates the extraction of incompletely synthesized nascent chains from stalled ribosomes as well as their ubiquitin-mediated proteasomal degradation. Highest expression in Cells Cultured fibroblasts (24.7 TPM) and Cells EBV-transformed lymphocytes (23.3 TPM).

Intellectual developmental disorder with speech delay and axonal peripheral neuropathy is strongly associated with mutations in the NEMF gene on chromosome 14.

The NEMF protein participates in NEMF polymerizes alanine residues onto the C-terminus of the nascent peptide ("CAT tailing") pathway.

NEMF is classified as a druggable target with score 0.0.

Genetic testing for NEMF is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder with speech delay and axonal peripheral neuropathy has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 6 common features.

No clinical trials have been registered for intellectual developmental disorder with speech delay and axonal peripheral neuropathy.

2 publications have been identified in PubMed for intellectual developmental disorder with speech delay and axonal peripheral neuropathy. Research spans Diagnostic / Biomarker (50%) and Case Report / Case Series (50%).

Recent Publications

• Xu J (2025). [PMID: 41272673](https://pubmed.ncbi.nlm.nih.gov/41272673/). *BMC Med Genomics*. [Diagnostic / Biomarker]

• Panda PK (2024). [PMID: 38819420](https://pubmed.ncbi.nlm.nih.gov/38819420/). *Ann Indian Acad Neurol*. [Case Report / Case Series]