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Summary of MRI and clinical characteristic of 7 patients diagnosed with BRRS
Patient No. Sex Age at MRI (y) Macrocephaly Mutation PTEN Development Physical Features WM Cyst Cyst Location
1 M 4 Yes Yes Autistic Abdominal hemangioma Yes f,p,t
2 M 0.65 Yes Yes Delay Café au lait spot, thyroid nodules, testicular hamartomas, rectal and gastric polyps Yes p
3 M 2.7 Yes No protein Autistic Motor speech disorder Yes f,p
4 M 3.5 90th centile No protein Delay Café au lait spot Yes p
5 M 2.6 Yes No protein Delay Moles, thyroid nodules, intestinal polyps Yes p
6 M 7.7 Yes No protein Delay Moles, thyroid nodules, intestinal polyps Yes p
7 M 7.7 Yes Yes Delay Pigmentation of the glans penis, multiple thyroid nodules, and carcinoma Yes f,p
Note:—f indicates frontal; p, parietal; t, temporal.

Patient No.	Sex	Age at MRI (y)	Macrocephaly	Mutation PTEN	Development	Physical Features	WM Cyst	Cyst Location
1	M	4	Yes	Yes	Autistic	Abdominal hemangioma	Yes	f,p,t
2	M	0.65	Yes	Yes	Delay	Café au lait spot, thyroid nodules, testicular hamartomas, rectal and gastric polyps	Yes	p
3	M	2.7	Yes	No protein	Autistic	Motor speech disorder	Yes	f,p
4	M	3.5	90th centile	No protein	Delay	Café au lait spot	Yes	p
5	M	2.6	Yes	No protein	Delay	Moles, thyroid nodules, intestinal polyps	Yes	p
6	M	7.7	Yes	No protein	Delay	Moles, thyroid nodules, intestinal polyps	Yes	p
7	M	7.7	Yes	Yes	Delay	Pigmentation of the glans penis, multiple thyroid nodules, and carcinoma	Yes	f,p