Table 3. Clinical Presentations of 6 Patients With Mutations in DIAPH1.

Proband ID	Age at presentation, y	Presenting symptoms	Laterality	Suzuki grade	Infarct (yes/no), region	Other MMD/stroke sequelae	Treatments	Comorbidities
KMM 2-1	8	Exertional headaches, ischemic stroke	Bilateral	Right: II-III	Yes, right frontal	None	Right pial synangiosis	Thrombocytopenia (platelets, 52 × 103/μL)
				Left: I
KMM 39-1	7	Headaches, ischemic stroke	Bilateral	Right: IV	Yes, right aca-mca and mca-pca border zones	None	Right pial synangiosis	Behavioral problems (aggression), motor tics (EEG negative), thrombocytopenia (platelets, 96 × 103/μL)
				Left: II-III			Left myo synangiosis
KMM 42-1	1	Ischemic stroke, seizures	Bilateral	Bilateral: V-VI	Yes, numerous right-sided strokes	Seizures, precocious puberty (hypothalamic infarct), visual impairment, developmental delay	Bilateral pial synangiosis	Neonatal jaundice, syndactyly, thrombocytopenia (platelets, 62 × 103/μL)
MM 087	2	Ischemic stroke	Bilateral	Data NA	Yes, right frontal	None	None	None
MM 094	26	Ischemic stroke	Bilateral	Data NA	Yes, right frontal and left frontal	Difficulty with executive function, social skills, reading, and writing	Bilateral encephalo, duro, and arterio synangiosis	ADD, obesity, obstructive sleep apnea, asthma
MM 117	47	Ischemic stroke, seizures	Bilateral	Right: IV	Yes, data NA	Hemianopsia, seizures	Data NA	Hypertension, left-ventricular hypertrophy, coronary artery disease, hypothyroidism

Abbreviations: ADD, attention-deficit disorder; EEG, electroencephalogram; MMD, moyamoya disease; NA, not available.

SI conversion factor: To convert platelets to ×10⁹/L, multiply by 1.