Phenotypes associated with the disease thanatophoric dysplasia, Glasgow variant (OMIM:273680):
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: IEA. (OMIM:273680)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:273680)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: IEA. (OMIM:273680)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:273680)
- 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: IEA. (OMIM:273680)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: IEA. (OMIM:273680)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: IEA. (OMIM:273680)