| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
Show
|
| HP:0000046 | Scrotal hypoplasia | |
Show
|
| HP:0000054 | Micropenis | |
Show
|
| HP:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
Show
|
| HP:0000202 | Cleft lip/palate | |
Show
|
| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
Show
|
| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
Show
|
| HP:0000280 | Coarse facial features | |
Show
|
| HP:0000336 | Prominent supraorbital ridges | "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators] |
Show
|
| HP:0000365 | Hearing loss | |
Show
|
| HP:0000400 | Large ears | |
Show
|
| HP:0000490 | Deep set eyes | |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
Show
|
| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
Show
|
| HP:0000574 | Thick eyebrows | |
Show
|
| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000771 | Gynecomastia | |
Show
|
| HP:0000823 | Delayed puberty | |
Show
|
| HP:0001182 | Tapered fingers | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
Show
|
| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
Show
|
| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
Show
|
| HP:0001769 | Broad feet | "Increased width of the feet." [HPO:curators] |
Show
|
| HP:0001831 | Brachydactyly (feet) | |
Show
|
| HP:0001836 | Camptodactyly (feet) | |
Show
|
| HP:0001956 | Truncal obesity | "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:curators] |
Show
|
| HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002684 | Thickened calvaria | "The presence of an abnormally thick calvaria." [HPO:curators] |
Show
|
| HP:0002808 | Kyphosis | |
Show
|
| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
Show
|
| HP:0003272 | Abnormality of the hip | "An abnormality of the hip joint or the surrounding anatomic region." [HPO:curators] |
Show
|
| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
Show
|
| HP:0005692 | Joint hyperflexibility | |
Show
|
| HP:0006110 | Disproportionately short middle phalanges | |
Show
|
| HP:0006118 | Hypoplastic distal and middle phalanges | |
Show
|
| HP:0008070 | Sparse hair | |
Show
|
| HP:0008094 | Widely spaced toes | "The presence of an abnormally wide spacing between the toes." [HPO:curators] |
Show
|
| HP:0008445 | Narrow cervical spinal canal | |
Show
|
| HP:0008478 | Scheuermann-like vertebral changes | |
Show
|
| HP:0008687 | Hypoplastic prostate | |
Show
|
| HP:0008734 | Decreased testicular size | |
Show
|
| HP:0008736 | Hypoplasia of penis | |
Show
|
| HP:0008872 | Feeding problems in infancy | |
Show
|
| HP:0009748 | Fleshy earlobes | "Abnormally thickened or fleshy earlobes." [HPO:curators] |
Show
|
| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
Show
|
| HP:0010864 | Mental retardation, severe | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
Show
|
