Phenotypes associated with the disease Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679):
- Moyamoya phenomenon (HP:0011834): A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280679)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Long philtrum (HP:0000343): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Hypergonadotropic hypogonadism (HP:0000815): Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Dilated cardiomyopathy (HP:0001644): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Ischemic stroke (HP:0002140): Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Premature graying of hair (HP:0002216): Development of gray hair at a younger than normal age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Short stature (HP:0004322): 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). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Congenital ptosis (HP:0007970). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280679)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280679)
- Wide nose (HP:0000445): Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280679)
- Flared nostrils (HP:0000454). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280679)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280679)
- Decreased response to growth hormone stimulation test (HP:0000824): Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280679)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280679)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280679)
- Coronary artery atherosclerosis (HP:0001677): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280679)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280679)