Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of <i>EMC10</i> ‐Related Neurodevelopmental Disorder
Bibliographic record
Abstract
The EMC10-Related Neurodevelopmental Disorder (also known as NEDDFAS for Neurodevelopmental Disorder with Dysmorphic Facies and variable Seizures) is an autosomal recessive syndrome characterized by global developmental delay, intellectual disability, microcephaly, seizures, renal abnormalities, and minor facial dysmorphic features. We report an individual with developmental delay and intellectual disability, harboring a homozygous pathogenic mutation in EMC10 (NM_206538.4, c.343C>T, p.(Arg115Ter)), identified through exome reanalysis. Notably, this patient presents gingival hyperplasia and scoliosis, features previously associated with EMC1 mutations, but not with EMC10 mutations. Here, we not only broaden the phenotypic spectrum of EMC10-Related Neurodevelopmental Disorder, but also underscore the importance of exome reanalysis in clinical practice.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.003 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".