| HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
Show
|
| HP:0000238 | Hydrocephalus | |
Show
|
| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
Show
|
| HP:0000322 | Short philtrum | |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
Show
|
| HP:0000457 | Flat nose | |
Show
|
| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
Show
|
| HP:0000878 | 11 pairs of ribs | |
Show
|
| HP:0000883 | Thin ribs | |
Show
|
| HP:0000926 | Platyspondyly | |
Show
|
| HP:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] |
Show
|
| HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
Show
|
| HP:0001321 | Cerebellar hypoplasia | |
Show
|
| HP:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
Show
|
| HP:0001522 | Death in infancy | |
Show
|
| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
Show
|
| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
Show
|
| HP:0002866 | Hypoplastic iliac wings | |
Show
|
| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
Show
|
| HP:0004279 | Hypoplastic hand | |
Show
|
| HP:0004331 | Decreased skull ossification | "A reduction in the magnitude or amount of ossification of the skull." [HPO:curators] |
Show
|
| HP:0005871 | Metaphyseal chondrodysplasia | |
Show
|
| HP:0006028 | Metaphyseal cupping of metacarpals | "Metaphyseal cupping affecting the metacarpal bones." [HPO:curators] |
Show
|
| HP:0006208 | Metaphyseal cupping of proximal phalanges | "Metaphyseal cupping affecting the proximal phalanges." [HPO:curators] |
Show
|
| HP:0006402 | Distal shortening of limbs | |
Show
|
| HP:0008364 | Abnormality of the calcaneus | |
Show
|
| HP:0008905 | Rhizomelic short stature | |
Show
|
| HP:0012789 | Hypoplasia of the calcaneus | "Underdevelopment of the heel bone." [HPO:probinson] |
Show
|
