- Hepatic failure (HP:0001399). Evidence: IEA. (OMIM:210050)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:210050)
- 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:210050)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: IEA. (OMIM:210050)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: IEA. (OMIM:210050)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: IEA. (OMIM:210050)
- Emphysema (HP:0002097). Evidence: IEA. (OMIM:210050)
- 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:210050)
- Cerebral berry aneurysm (HP:0007029): A small, sac-like aneurysm (outpouching) of a cerebral blood vessel. Evidence: IEA. (OMIM:210050)
- Nonarteriosclerotic cerebral calcification (HP:0007238). Evidence: IEA. (OMIM:210050)
These phenotypes are associated with the disease berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification (OMIM:210050).