22q11.2 deletion syndrome affects many organs with different severity and penetrance (). Palatal anomalies are very common in 22q11.2DS patients. These are mainly: velopharyngeal insufficiency (27–92%), submucous cleft palate (5–16%), cleft palate (9–11%), and bifid uvula (5%) [
5]. In terms of immune profile, immunodeficiency is very common. Sixty-seven percent of patients experience impaired T cell production, six percent—an IgA deficit, 23 percent—humoral defects (relevant in reaction to vaccines). The immune system usually normalises itself by the first year of life; however, more infections may occur in adulthood [
23,
52,
53]. Cardiac anomalies in 22q11.2 individuals include: Tetralogy of Fallot (20–45%), an interrupted aortic arch (5–20%), ventriculoseptal defects (10–50%), truncus arteriosus (5–10%) [
5,
17,
54] During the screening of patients with congenital heart disease, 22q11.2DS is detected in half of the cases of interrupted aortic arch, among one third of the patients with truncus arteriosus, and in one-sixth of patients with Tetralogy of Fallot. These studies demonstrate that there is a reasonable amount of cases of 22q11.2 deletion among patients with these conditions [
55,
56]. Endocrine problems include mainly: hypocalcemia (50%) and growth hormone deficiency (4%). Hypocalcemia is often resolved at a neonatal stage. Calcium deficiency may recur in times of disease and stress. Calcium levels should be monitored yearly. Major findings in renal abnormalities include having a single kidney (12%), multicystic dysplatic kidney 4%, or hydronephrosis 5% [
57]. Feeding and swallowing anomalies include: gastroesophageal reflux, esophageal dysmotility, constipation, prolonged tube feedings, and G-tube placement [
58,
59]. Tortuous retinal vessels (58%) and posterior embryotoxon (69%) are common ophthalmologic abnormalities. Neurological problems include: cerebral atrophy (1%) and cerebral hypoplasia (0.4%). Skeletal abnormalities are not very common. They include cervical spine anomalies (40–50%), vertebral anomalies (19%) and anomalies of lower limbs (15%) [
5]. Additionally, there are characteristic dysmorphic features, which are mild and are not visible for non-professionals or can only be noticed when individuals with 22q11.2DS are gathered together. They are the following: elongated face, low-set small dysplastic ears, microstomia, small teeth, congenital tooth or enamel agenesis, almond-shaped eyes, hypertelorism, a prominent long bulbous nose, retro- and micrognathia, a short neck and characteristic arachnodactyly [
60]. According to human phenotype ontology database Abnormal facial shape (HP:0001999), Epicanthus (HP:0000286), Bulbous nose (HP:0000414), Wide nasal bridge (HP:0000431), Prominent nasal bridge (HP:0000426), Telecanthus (HP:0000506), Upslanted palpebral fissure (HP:0000582), and Low-set ears (HP:0000369) are very frequent [
61]. Psychiatric problems occur mainly in adolescence. About 25% of 22q11.2 individuals have schizophrenia [
62,
63,
64,
65]. One per 100 patients with schizophrenia has 22q11.2 deletion [
5]. The beneficial effects of omega-3 supplementation on attentional control and in transition to psychosis could support its early use in the 22q11DS population [
66]. Pituitary dysmaturation is also present and could be associated with pleiotropic psychopathology and atypical neurodevelopment [
67]. Sleep problems and motor coordination problems are also common in young 22q11.2DS patients [
68]. Development delays need to be checked at every step of infancy and childhood, as early intervention can help provide support for children with the deletion [
69,
70]. The most common problems are motor delays and speech difficulty, which can be connected with very frequent conductive hearing impairment (HP:0000405) and muscular hypotonia (HP:0001252) [
61,
71,
72,
73,
74]. Delays in reaching motor milestones and the emergence of language are common in children with 22q11.2DS. Motor delays may be associated with congenital heart disease and are less severe, while delays in language development are more noticeable and are not associated with any major medical issues [
75]. A recent pilot study of motor phenotypes shows that the developmental history of 22q11.2DS children differs from that of their siblings (control). They fail to thrive (42%), are more likely to experience feeding difficulties (84%), and parents have reported on their clumsiness (79%). Only 32% are able to talk by the age of 2, in contrast to 92% of their siblings. Sixty-eight percent stated special educational needs and were using a health care plan. Children with 22q11.2 deletion syndrome are able to button their clothes at 6.2 years (median) and to do up their laces at 9.75. Upon examination, 95% show evidence of movement disorders and dystonia [
71]. The mean IQ of such individuals is about 70, and 22q11.2DS children have problems with mathematics and other skills that require abstract reasoning [
76,
77,
78,
79]. Children with 22q11.2 deletion are also withdrawn and struggle in social situations, which makes their school lives harder [
80,
81,
82,
83,
84]. Parents of children with 22q1.2 deletion syndrome are more stressed compared to parents of typically developing children, so this could also be another burden on the young 22q11.2DS patient [
85]. Such children nevertheless usually go through the normal educational system, with the help of their parents and teachers [
86]. It is not easy for 22q11.2 to gain employment after graduation; however, about 33% of 22q11.2DS adults were employed in an open market and about 25% in an assisted-employment environment [
87]. Professions occupied by 22q11.2 adults include: cooks, farmers, security guards, maintenance staff, office employees, nurses, homemakers, early childhood educators, family therapists [
23]. The life expectancy for adults with 22q11.2DS is lower than expected among other members of their families. According to data on 309 adults with 22q11.2DS, the range of deaths is 18.1–68.6 years, with a median age of 46.4 [
88].