Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

Table 1

Summary of clinical and imaging findings in patients with Vici syndrome.

	Previous reports	Patient 1	Patient 2	Total
Sex	8 males, 4 females	Male	Female	9 males, 5 females
Poor growth	12/12	+	+	14/14
Developmental delay	12/12	+	+	14/14
Atypical facies	12/12	—	+	13/14
Cataracts	9/12	+	+	11/14
Palatal abnormalities	8/12	+	+	10/14
Hypopigmentation	12/12	+	+	14/14
ACC	12/12	+	+	14/14
Seizures	7/12	+	+	9/14
Hypotonia	12/12	+	+	14/14
Cardiomyopathy	11/12	+	+	13/14
Recurrent infections/immune deficiency	11/12	+	+	13/14

+ Indicates presence of symptom.
— Indicates absence of symptom.