Phenotypes associated with the disease MORM syndrome (ORPHA:75858, an Orphanet rare-disease identifier):
- Micropenis (HP:0000054, a Human Phenotype Ontology term): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:75858)
- Visual impairment (HP:0000505, a Human Phenotype Ontology term): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:75858)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:75858)
- Truncal obesity (HP:0001956, a Human Phenotype Ontology term): Obesity located preferentially in the trunk of the body as opposed to the extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:75858)
- Cataract (HP:0000518, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:75858)
- Retinal dystrophy (HP:0000556, a Human Phenotype Ontology term): Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:75858)
- Aggressive behavior (HP:0000718, a Human Phenotype Ontology term): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:75858)
- Hyperactivity (HP:0000752, a Human Phenotype Ontology term): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:75858)
- Retinal atrophy (HP:0001105, a Human Phenotype Ontology term): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:75858)
- Mild intellectual disability (HP:0001256, a Human Phenotype Ontology term): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:75858)
- Moderate intellectual disability (HP:0002342, a Human Phenotype Ontology term): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:75858)
- Poor speech (HP:0002465, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:75858)
- Progressive night blindness (HP:0007675, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:75858)
- Severe intellectual disability (HP:0010864, a Human Phenotype Ontology term): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:75858)
- Abnormality of the kidney (HP:0000077, a Human Phenotype Ontology term): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:75858)
Not associated with this disease:
- Photophobia (HP:0000613, a Human Phenotype Ontology term): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. (ORPHA:75858)
- Nystagmus (HP:0000639, a Human Phenotype Ontology term): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. (ORPHA:75858)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. (ORPHA:75858)