Phenotypes associated with the disease moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (OMIM:300845):
- 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: PCS. (PMID:21596366)
- 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: PCS. Frequency: 7/7. (PMID:21596366)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:300845)
- 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: PCS. Frequency: 6/7. (PMID:21596366)
- Decreased circulating antimullerian hormone circulation (HP:0031103): A reduction below the normal range of the antimullerian hormone in the circulation. Evidence: PCS. Frequency: 1/3. (PMID:21596366)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 4/7. Onset: Childhood onset (HP:0011463). (PMID:21596366)
- 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. (OMIM:300845)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 6/7. (PMID:21596366)
- 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: PCS. (PMID:21596366)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 7/7. (PMID:21596366)
- Broad finger (HP:0001500): Increased width of a non-thumb digit of the hand. Evidence: TAS. (OMIM:300845)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: PCS. Frequency: 4/4. (PMID:21596366)
- Premature graying of hair (HP:0002216): Development of gray hair at a younger than normal age. Evidence: PCS. Frequency: 6/9. (PMID:21596366)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. (OMIM:300845)
- Abnormal hand morphology (HP:0005922): Any structural anomaly of the hand. Evidence: TAS. (OMIM:300845)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. (OMIM:300845)
- 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: PCS. Frequency: 3/7. (PMID:21596366)
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: TAS. (OMIM:300845)
- Abnormal nostril morphology (HP:0005288): Abnormality of the nostril. Evidence: TAS. (OMIM:300845)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. (OMIM:300845)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: PCS. Frequency: 7/7. (PMID:21596366)
- 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). (OMIM:300845)
- Reduced circulating growth hormone concentration (HP:0034323): Concentration of growth hormone in the blood circulation below normal limits. Evidence: PCS. Frequency: 4/9. (PMID:21596366)
- Premature coronary artery atherosclerosis (HP:0005181): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. Evidence: PCS. Frequency: 1/9. (PMID:21596366)
- X-linked recessive inheritance (HP:0001419): 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. Evidence: PCS. (PMID:21596366)
- Right aortic arch (HP:0012020): Aorta descends on right instead of on the left. Evidence: PCS. Frequency: 1/2. (PMID:21596366)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 6/9. (PMID:21596366)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 3/9. (PMID:21596366)
- 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. (OMIM:300845)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: TAS. (OMIM:300845)
- Abnormal left ventricle morphology (HP:0001711): Any structural abnormality of the left ventricle of the heart. Evidence: TAS. (OMIM:300845)
- 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. (OMIM:300845)
- Stroke-like episode (HP:0002401): No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. Evidence: PCS. Frequency: 5/7. (PMID:21596366)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: PCS. Frequency: 3/3. (PMID:21596366)
- 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. (OMIM:300845)