Phenotypes associated with the disease Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome (ORPHA:280384):
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280384)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280384)
- Limb joint contracture (HP:0003121): A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280384)
- Severe intellectual disability (HP:0010864): 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: Very frequent (HP:0040281). (ORPHA:280384)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280384)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280384)
- Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373): A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280384)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280384)
- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280384)
- Ankle flexion contracture (HP:0006466). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280384)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280384)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280384)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280384)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280384)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280384)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280384)
- Hand tremor (HP:0002378): An unintentional, oscillating to-and-fro muscle movement affecting the hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280384)
- Upper limb hyperreflexia (HP:0007350): Increased intensity of the a reflex in the arm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280384)
- Ankle clonus (HP:0011448): Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280384)
- Abnormal lumbar spine morphology (HP:0100712): Any structural abnormality of the lumbar vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280384)