Phenotypes associated with the disease Microphthalmia-ankyloblepharon-intellectual disability syndrome (ORPHA:85275, an Orphanet rare-disease identifier):
- Anophthalmia (HP:0000528, a Human Phenotype Ontology term): Absence of the globe or eyeball. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:85275)
- Microphthalmia (HP:0000568, a Human Phenotype Ontology term): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:85275)
- 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: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:85275)
- Ankyloblepharon (HP:0009755, a Human Phenotype Ontology term): Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:85275)