Phenotypes associated with the disease Hypotrichosis-intellectual disability, Lopes type (ORPHA:2266):
- Intellectual disability (HP:0001249): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2266)
- 1-5 finger complete cutaneous syndactyly (HP:0006088). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2266)
- Advanced eruption of teeth (HP:0006288): Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2266)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2266)