Phenotypes associated with the disease immunodeficiency 93 and hypertrophic cardiomyopathy (OMIM:619705, an entry in Online Mendelian Inheritance in Man):
- Decreased circulating IgM concentration (HP:0002850, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 2/3. (PMID:32181500)
- Broad-based gait (HP:0002136, a Human Phenotype Ontology term): An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. Evidence: PCS. Frequency: 2/3. (PMID:32181500)
- Agammaglobulinemia (HP:0004432, a Human Phenotype Ontology term): A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. Evidence: PCS. Frequency: 3/3. (PMID:32905580)
- Crohn's disease (HP:0100280, a Human Phenotype Ontology term): A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. Evidence: PCS. Frequency: 1/3. (PMID:32905580)
- Decreased class-switched memory B cell proportion (HP:0030388, a Human Phenotype Ontology term): A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. Evidence: PCS. Frequency: 2/3. (PMID:32181500)
- Bronchiectasis (HP:0002110, a Human Phenotype Ontology term): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: IEA. Frequency: 1/3. (PMID:32905580)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/3. (PMID:32905580)
- Right ventricular dilatation (HP:0005133, a Human Phenotype Ontology term): Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1. Evidence: PCS. Frequency: 1/3. (PMID:32905580)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/3. (PMID:32905580)
- Bronchial wall thickening (HP:0033542, a Human Phenotype Ontology term): Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density. Evidence: PCS. Frequency: 1/3. (PMID:32905580)
- Delayed fine motor development (HP:0010862, a Human Phenotype Ontology term): A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. Evidence: PCS. Frequency: 3/3. (PMID:32181500)
- Delayed gross motor development (HP:0002194, a Human Phenotype Ontology term): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: PCS. Frequency: 3/3. (PMID:32181500)
- Appendicular hypotonia (HP:0012389, a Human Phenotype Ontology term): Muscular hypotonia of one or more limbs. Evidence: PCS. Frequency: 2/3. (PMID:32181500)
- Decreased total B cell count (HP:0010976, a Human Phenotype Ontology term): The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 2/3. (PMID:32181500)
- Tricuspid regurgitation (HP:0005180, a Human Phenotype Ontology term): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 1/3. (PMID:32905580)
- Hypertrophic cardiomyopathy (HP:0001639, a Human Phenotype Ontology term): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: PCS. Frequency: 6/6. (PMID:32181500;PMID:32905580)
- Wolff-Parkinson-White syndrome (HP:0001716, a Human Phenotype Ontology term): A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. Evidence: PCS. Frequency: 2/3. (PMID:32181500)
- Absent circulating B cells (HP:0030252, a Human Phenotype Ontology term): Absence of detectable circulating B cells, commonly characterized as CD19+ or CD20+ lymphocytes, in the blood. Usually, less than 20 cells per microlitre is considered to be an absence. Evidence: PCS. Frequency: 3/3. (PMID:32905580)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:32181500)
- Decreased circulating IgG concentration (HP:0004315, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 2/3. (PMID:32181500)
- Decreased total neutrophil count (HP:0001875, a Human Phenotype Ontology term): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 2/3. (PMID:32181500)