HP:0000053 | Macroorchidism | "The presence of abnormally large testes." [HPO:curators] |
Show
|
HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
Show
|
HP:0000276 | Long face | |
Show
|
HP:0000280 | Coarse facial features | |
Show
|
HP:0000307 | Pointed chin | |
Show
|
HP:0000494 | Downward slanting palpebral fissures | |
Show
|
HP:0000601 | Hypotelorism | |
Show
|
HP:0000750 | Impaired language development | |
Show
|
HP:0001182 | Tapered fingers | |
Show
|
HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
Show
|
HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
Show
|
HP:0001276 | Hypertonia | |
Show
|
HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
Show
|
HP:0001360 | Holoprosencephaly | "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [gc:hpe] |
Show
|
HP:0001377 | Limited elbow extension | |
Show
|
HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [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:0002194 | Delayed gross motor development | |
Show
|
HP:0002342 | Mental retardation, moderate | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] |
Show
|
HP:0006466 | Contractures of the ankles | |
Show
|
HP:0008222 | Female infertility | |
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
|
HP:0100596 | Absent nares | |
Show
|