Phenotypes associated with the disease severe combined immunodeficiency due to DNA-PKcs deficiency (OMIM:615966, an entry in Online Mendelian Inheritance in Man):
- Long philtrum (HP:0000343, a Human Phenotype Ontology term): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Recurrent lower respiratory tract infections (HP:0002783, a Human Phenotype Ontology term): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: TAS. (OMIM:615966)
- Seizure (HP:0001250, a Human Phenotype Ontology term): 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: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- 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: 1/1. (PMID:19075392)
- Brain atrophy (HP:0012444, a Human Phenotype Ontology term): Partial or complete wasting (loss) of brain tissue that was once present. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Abnormal natural killer cell morphology (HP:0012176, a Human Phenotype Ontology term): An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells. Evidence: PCS. Frequency: 0/1. (PMID:19075392)
- Prominent forehead (HP:0011220, a Human Phenotype Ontology term): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Thin upper lip vermilion (HP:0000219, a Human Phenotype Ontology term): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- CNS hypomyelination (HP:0003429, a Human Phenotype Ontology term): Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Pachygyria (HP:0001302, a Human Phenotype Ontology term): Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Cerebellar vermis hypoplasia (HP:0001320, a Human Phenotype Ontology term): Underdevelopment of the vermis of cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Decreased total T cell count (HP:0005403, a Human Phenotype Ontology term): Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: PCS. Frequency: 1/1. (PMID:19075392)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. (OMIM:615966)
- Micropenis (HP:0000054, a Human Phenotype Ontology term): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Hypoplasia of the corpus callosum (HP:0002079, a Human Phenotype Ontology term): Underdevelopment of the corpus callosum. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Short chin (HP:0000331, a Human Phenotype Ontology term): Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Deeply set eye (HP:0000490, a Human Phenotype Ontology term): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Severe combined immunodeficiency (HP:0004430, a Human Phenotype Ontology term): A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. Evidence: PCS. Frequency: 1/1. (PMID:19075392)
- 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: 1/1. (PMID:19075392)
- Overlapping fingers (HP:0010557, a Human Phenotype Ontology term): A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Recurrent aphthous stomatitis (HP:0011107, a Human Phenotype Ontology term): Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: TAS. (OMIM:615966)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- 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:19075392)
- Visual impairment (HP:0000505, a Human Phenotype Ontology term): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Intrauterine growth retardation (HP:0001511, a Human Phenotype Ontology term): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)
- Simplified gyral pattern (HP:0009879, a Human Phenotype Ontology term): An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615966)