| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
26118977 (4487781) |
EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. Deml B, Reis LM, Muheisen S, Bick D, Semina EV. Birth Defects Res A Clin Mol Teratol. 2015;103(7):630-40. |
| Microcephaly | ||
| EFTUD2 | ||
| c|DEL|378_385| c|DEL|473_474|GA p|FS|S|127|D|23 rs1085307457 rs1555563998 rs1555564006 rs1555564175 rs1555565772 rs1555565807 | ||
| Animal Model Animals Child, Preschool Exome Eye Abnormalities Females Homo sapiens Mutation Peptide Elongation Factors Ribonucleoprotein, U5 Small Nuclear Zebrafish |
Total: 30
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000243 | Trigonocephaly | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000327 | Hypoplasia of the maxilla | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000356 | Abnormality of the outer ear | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000384 | Preauricular skin tag | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005484 | Postnatal microcephaly | Very frequent (99-80%) |
| HP:0008551 | Microtia | Very frequent (99-80%) |
| HP:0008609 | Morphological abnormality of the middle ear | Very frequent (99-80%) |
| HP:0009738 | Abnormality of the antihelix | Very frequent (99-80%) |
| HP:0011268 | Absent tragus | Very frequent (99-80%) |
| HP:0011272 | Underdeveloped tragus | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0000191 | Accessory oral frenulum | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000396 | Overfolded helix | Frequent (79-30%) |
| HP:0000413 | Atresia of the external auditory canal | Frequent (79-30%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0001177 | Preaxial hand polydactyly | Frequent (79-30%) |
| HP:0009748 | Large earlobe | Frequent (79-30%) |
| HP:0000405 | Conductive hearing impairment | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000568 | Microphthalmia | 1 |
| HP:0000589 | Coloboma | 1 |