| Db | Link | Name | Definition | Comment | Is a |
|---|---|---|---|---|---|
| HPO | HP:0009623 | Proximal placement of thumb | "Proximal mislocalization of the thumb." [HPO:probinson, PMID:19125433] | Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. | HP:0009603 |
| HPO | HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:probinson] | — | HP:0000290 |
| HPO | HP:0001256 | Intellectual disability, mild | "Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:probinson] | — | HP:0001249 |
| HPO | HP:0000454 | Flared nostrils | — | — | HP:0000429 |
| HPO | HP:0001388 | Joint laxity | "Lack of stability of a joint." [HPO:probinson] | Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. | HP:0011729 |
| HPO | HP:0000540 | Hypermetropia | "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [HPO:probinson] | The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D). | HP:0000539 |
| HPO | HP:0002119 | Ventriculomegaly | "An increase in size of the ventricular system of the brain." [HPO:probinson] | — | HP:0002118 |
| HPO | HP:0002719 | Recurrent infections | "Increased susceptibility to infections." [HPO:probinson, HPO:skoehler] | — | HP:0032101 |
| HPO | HP:0001518 | Small for gestational age | "Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [DDD:hfirth] | — | HP:0004325 |
| OMIM | OMIM:613406 | WITTEVEEN-KOLK SYNDROME; WITKOS | — | — | — |