| HPO |
HP:0001513 |
Obesity |
"Accumulation of substantial excess body fat." [] |
— |
HP:0004324 |
| HPO |
HP:0002187 |
Intellectual disability, profound |
"Profound mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:probinson] |
Persons with profound mental retardation generally require constant care. |
HP:0001249 |
| HPO |
HP:0006118 |
Shortening of all distal phalanges of the fingers |
"Hypoplasia of all of the distal phalanx of finger." [HPO:probinson] |
— |
HP:0009882 |
| HPO |
HP:0012704 |
Widened subarachnoid space |
"An increase in size of the anatomic space between the arachnoid membrane and pia mater." [HPO:probinson] |
— |
HP:0012703 |
| 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 |
| HPO |
HP:0000637 |
Long palpebral fissure |
"Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures." [PMID:19125427] |
— |
HP:0200007 |
| HPO |
HP:0000343 |
Long philtrum |
"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] |
— |
HP:0000288 |
| HPO |
HP:0000219 |
Thin upper lip vermilion |
"Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)." [PMID:19125428] |
Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. |
HP:0000233, HP:0011339 |
| HPO |
HP:0010864 |
Intellectual disability, severe |
"Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. |
HP:0001249 |
| HPO |
HP:0000494 |
Downslanted palpebral fissures |
"The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] |
— |
HP:0200006 |
| HPO |
HP:0010628 |
Facial palsy |
"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form." [HPO:sdoelken] |
Several conditions can cause a facial paralysis, e.g. brain tumor, stroke, and Lyme disease. However, if no specific cause can be identified, the condition is known as Bell's palsy. Named after Scottish anatomist Charles Bell, who first described it. Bell's palsy is the most common acute mononeuropathy (disease involving only one nerve) and is the most common cause of acute facial nerve paralysis. |
HP:0001324, HP:0006824, HP:0010827, HP:0030319 |
| OMIM |
OMIM:300498 |
MENTAL RETARDATION, X-LINKED 45; MRX45 |
— |
— |
— |