Phenotypes associated with the disease Laron syndrome (OMIM:262500):
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Onset: Infantile onset (HP:0003593). (OMIM:262500)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: PCS. Frequency: 4/5. (PMID:33912130;PMID:31883394)
- Small face (HP:0000274): A face that is short and narrow. Evidence: IEA. (OMIM:262500)
- Limb undergrowth (HP:0009826): Limb shortening because of underdevelopment of one or more bones of the extremities. Evidence: IEA. (OMIM:262500)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 4/4. (PMID:33912130)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:31883394)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:262500)
- Decreased circulating insulin-like growth factor 1 concentration (HP:0030353): The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 4/4. (PMID:33912130)
- Delayed menarche (HP:0012569): First period after the age of 15 years. Evidence: TAS. (OMIM:262500)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:262500)
- Abnormal joint morphology (HP:0001367): An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. Evidence: IEA. (OMIM:262500)
- Abnormally high-pitched voice (HP:0001620): A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual. Evidence: IEA. (OMIM:262500)