Table 1.

Clinical findings of MPS IIB patients.

	P-1	P-2	P-3	P-4	P-5	P-6	P-7	P-8	P-9	P-10	P-11	P-12	P-13
Family no	1	2	3	4	5	6	7	8	7	9	10	11	9
Gender	F	F	M	M	F	F	M	F	F	F	M	F	F
Age of onset (years)	2,5	2	7	Neonate	1	2	3,5	2,5	6	1	2	1	1,5
Age at diagnosis (years)	5	7	9,5	1	4	3,5	3,5	5	6	3	2	3	5
Intellectual disability	+	+	+	+	+	+	+	+	+	+	+	+	+
Hepatomegaly	+	+	+	+	+	+	+	+	+	+	−	+	−
Coarse face	+	+	−	+	+	+	+	+	+	+	−	+	+
Macrocephaly	−	+	−	−	−	−	+	+	+	+	+	−	+
Hypertrichosis	+	+	−	+	+	+	+	+	+	−	+	N/A	−
Ophtalmologic findings	Optic atrophy	Optic atrophy, retinal dystrophy	N	N	Optic atrophy	N	N	N	N	N	N	Optic disc myelinated by nerve fiber, Exotropia	N
Hearing loss	+	N/A	+	N/A	N/A	+	+	−	−	−	−	+	−
Echocardiography	Bicuspid aortic valve, left ventricular diastolic dysfunction	Myxomatous changes in the mitral and aortic valve	MVP, Hypertrophic intraventricular septum	DCMP, MVP	N/A	Aortic valve insufficiency	N	Mitral valve insufficiency	Aortic stenosis, Minimale mitral valve insufficiency	MVP	N	VSD, pulmonary stenosis,	N
Cranial MRI	Thinning of the corpus callosum, colposephalic enlargement in the lateral ventricles	Cerebral cortical atrophy	Hyperintense areas in white matter	Corpus callosum hypoplasia, white matter hypo-myelination	Cerebral cortical atrophy	Mild cerebral atrophy, hydrocephalus	Hypointense areas in the periventricular and subcortical white matter of the occipital lobes in both cerebral hemispheres, and gliosis areas	N/A	N/A	Abnormalities in white matter, ventriculome-galy	Enlarged subarachnoid and perivascular spaces diffuse cerebral atrophy	Diffuse cerebral atrophy	Diffuse cerebral atrophy, ventriculomegaly
Epilepsy	+	−	−	+	+	+	−	−	−	+	−	+	−
Hyperactivity	+	+	−	+	−	−	−	+	−	+	+	−	+
Sleep disorder	+	+	N/A	+	+	+	−	+	+	+	+	+	+

F: Female, M: Male, N/A: Not applicable, N: Normal, MVP: Mitral valve prolapsus, DCMP: Dilated cardiomyopathy, VSD: Ventricular septal defect,