Bibliographic record
Abstract
Abstract This is one of the most common autosomal recessive disorders. Most studies in Europe, the United States, and Canada have found an incidence of 1 in 20,000 births. In some regions, the disorder may occur as often as 1 in 10,000 births. The incidence appears to be much lower in Asian and African populations. The syndrome affects development before and after birth. It was described in three boys with poor growth, developmental delay, and a pattern of congenital malformations, including cleft palate, genital malformation, and polydactyly. Other clinical abnormalities include microcephaly, low-set ears, small upturned nose, webbing between the second and third toes, abnormal palmar creases (usually single), ambiguous male genitalia with hypospadias and undescended testicles, cataracts, blepharoptosis, heart defects, micrognathia, pyloric stenosis, short thumbs, and Hirschsprung disease.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.004 | 0.000 |
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 teacher head, 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".