<unk><unk> s have a variable phenotype, ranging from few or no symptoms to severe disability. The condition is thought to be underdiagnosed, and cases with milder phenotypes may not reach clinical attention unless they have an affected child themselves. The most characteristic symptom is renal cysts and diabetes syndrome (RCAD), also known as "type 5 diabetes", which is caused by deletion of the associated HNF1B gene in the region. RCAD is associated with kidney abnormalities and a characteristic form of diabetes that causes atrophy of the pancreas. However, some people with<unk><unk> s have normal renal function. RCAD is diagnosed in approximately 40% of people with<unk><unk> s, usually prior to age 25, while kidney abnormalities more broadly occur in approximately 85-90%. People with<unk><unk> s have a characteristic facial phenotype, albeit a subtle one not usually obvious in daily life. Macrocephaly is common, along with high arched eyebrows, flattening of the malar region, and epicanthic folds. Pathological short stature is possible, and a characteristic "short and stocky" body shape occurs in many cases.<unk><unk> s are associated with neurocognitive and developmental involvement of variable severity. Some have mild to moderate intellectual disability; however, such impairment is not universal. Average intelligence is in the average to low average range. Speech delay is common, regardless of intellectual functioning. The most striking association between<unk><unk> s and neurodevelopment is the raised prevalence of autism spectrum disorder, with significant increases in both diagnosis and subclinical autistic traits.<unk><unk> s have been implicated as one of the major genetic causes of high-functioning autistic spectrum disorders. Schizophrenia is also a significant psychiatric complication of<unk> .<unk><unk> s are estimated to occur in approximately 1 in 1,600 schizophrenic people, compared to an estimation of below 1 in 50,000 in the general population. Epilepsy, usually mild, occurs in approximately one-third of cases. Reproductive system anomalies are associated with<unk><unk> s, particularly in females.<unk><unk> s have been linked to uterine malformations, most frequently Müllerian agenesis, where the uterus and part of the vaginal canal are absent. Autosomal dominant inheritance
17q12 microdeletion syndrome
13q deletion syndrome
2q37 deletion syndrome
22q13 deletion syndrome
1p36 deletion syndrome
22q11.2 distal deletion syndrome
3q29 microdeletion syndrome
1q21.1 deletion syndrome