Phenotypes associated with the disease intellectual disability, X-linked 91 (OMIM:300577):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: IEA. (OMIM:300577)
- Macrodontia (HP:0001572): Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. Evidence: IEA. (OMIM:300577)
- Mild intellectual disability (HP:0001256): 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: IEA. (OMIM:300577)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: IEA. (OMIM:300577)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: IEA. (OMIM:300577)
- 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: IEA. (OMIM:300577)
- Severe muscular hypotonia (HP:0006829): A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. Evidence: IEA. Onset: Infantile onset (HP:0003593). (OMIM:300577)
- 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: IEA. Frequency: 20/20. (OMIM:300577)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: IEA. (OMIM:300577)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: IEA. (OMIM:300577)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: IEA. (OMIM:300577)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: IEA. (OMIM:300577)
- Short 5th finger (HP:0009237): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: IEA. (OMIM:300577)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: IEA. (OMIM:300577)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: TAS. (OMIM:300577)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: IEA. (OMIM:300577)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: IEA. (OMIM:300577)
- X-linked dominant inheritance (HP:0001423): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: TAS. (OMIM:300577)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: IEA. Onset: Infantile onset (HP:0003593). (OMIM:300577)