Phenotypes associated with the disease Hhhh syndrome (OMIM:306960):
- Hemiatrophy (HP:0100556): Undergrowth of the limbs that affects only one side. Evidence: TAS. (OMIM:306960)
- 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:306960)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: IEA. (OMIM:306960)
- X-linked recessive inheritance (HP:0001419): 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:306960)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: IEA. (OMIM:306960)