Table 2.

Additional features observed in individuals with JS

Characteristic	N	Minimum prevalence (%)*
Nervous system
Agenesis of the corpus callosum	16a	3.0
Heterotopia	15	2.8
Polymicrogyria	7	1.3
Ventriculomegaly	53	10.0
Seizures	55	10.3
Mouth
Cleft Palate
Hard Palate	13	2.4
Soft Palate	7	1.3
Tongue Tumors	17	3.2
Oral Frenulae	9	1.7
Eye
Strabismus	167	31.4
Ptosis	104	19.5
Other
Hearing Loss	16	3.0
G-Tube	43	8.1
Scoliosis	28	5.3
Heart	7b	1.3
Endocrine
Panhypopituitarism	5	0.9
Hypothyroidism	4	0.8
Micropenis	10	1.9
Other	11c	2.1
Laterality defects	3d	0.8
Mental Health Issues	47e	8.8

^*assumes that the feature is absent when the feature is not documented to be present. Denominator=532 individuals.

^aincludes complete (13) and partial (3) agenesis of the corpus callosum

^bincludes atrial septal defect (3), coarctation of aorta (2), bicuspid aortic valve and aortic stenosis (1), narrowing of aortic arch (1)

^cincludes Hashimoto’s disease (1), type I diabetes mellitus (2), unknown type diabetes (1), ovarian failure (1), polycystic ovarian syndrome (1), growth hormone deficiency (3), elevated parathyroid hormone (1), and absence of pituitary bright spot, premature puberty, and borderline diabetes (1)

^dincludes dextrocardia (1), situs inversus (2)

^eincludes anxiety (6), ADHD/ADD (8), autism spectrum disorder (16), depression/bipolar disorder (5), aggression (2), obsessive compulsive disorder (2), borderline personality disorder (1), Anorexia Nervosa (1), non-specified behavioral problems (6)