Phenotypes associated with the disease intellectual disability, X-linked 92 (OMIM:300851, an entry in Online Mendelian Inheritance in Man):
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: 3/8. (PMID:16385466)
- X-linked recessive inheritance (HP:0001419, a Human Phenotype Ontology term): 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: TAS. (OMIM:300851)
- Blepharophimosis (HP:0000581, a Human Phenotype Ontology term): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: PCS. Frequency: 2/8. (PMID:16385466)
- X-linked inheritance (HP:0001417, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:16385466)
- High myopia (HP:0011003, a Human Phenotype Ontology term): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 2/8. (PMID:16385466)
- Decreased testicular size (HP:0008734, a Human Phenotype Ontology term): Reduced volume of the testicle (the male gonad). Evidence: PCS. Frequency: 2/8. (PMID:16385466)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. (PMID:16385466)