Phenotypes associated with the disease Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency (OMIM:616126):
- Basal ganglia calcification (HP:0002135): The presence of calcium deposition affecting one or more structures of the basal ganglia. Evidence: IEA. Frequency: 3/3. (PMID:25307056)
- 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: PCS. Frequency: 3/6. (PMID:25307056;PMID:22859821)
- BCGitis (HP:0020086): Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. Evidence: PCS. Frequency: 3/3. (PMID:22859821)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:22859821)
- Axillary lymphadenopathy (HP:0034752): Enlarged lymph node located in the axillary region (armpit). Evidence: PCS. Frequency: 1/3. (PMID:22859821)
- Neurodevelopmental abnormality (HP:0012759): A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. Evidence: PCS. Frequency: 0/3. (PMID:22859821)
- Severe viral infection (HP:0031691): An unusually severe viral infection. Evidence: PCS. Frequency: 0/3. (PMID:25307056)
- Inguinal lymphadenopathy (HP:0034751): Enlarged lymph node located in the inguinal region (groin). Evidence: PCS. Frequency: 1/3. (PMID:22859821)
- Recurrent mycobacterial infections (HP:0011274): Increased susceptibility to mycobacterial infections as manifested by recurrent episodes of mycobacterial infection. Evidence: PCS. Frequency: 2/3. (PMID:22859821)
- 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: PCS. (PMID:22859821)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 2/3. (PMID:22859821)
- Recurrent viral infections (HP:0004429): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: PCS. Frequency: 0/3. (PMID:22859821)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. (PMID:22859821)