Table 3.

Clinical Findings and Youngest Age of Diagnosis in Children with Diagnosed PHTS

Clinical Finding	Presenting Clinical Feature N (%)	Post-Diagnosis Phenotype* N (%)	Youngest Documented Age
Macrocephaly	69 (85.1)	78/81 (96.3)	< 1 year
DD/ID	34 (42.0)	53/56 (94.6)	1 year
Skin and oral lesions	25 (30.9)	30/44 (68.2)	2 years
ASD	22 (27.2)	31/56 (55.4)	1 year
Penile Freckling	14 (33.3)	15/42 (35.7)	3 years
Hypotonia	11 (13.6)	11/81 (13.6)	< 1 year
Breast lesions	5 (12.8)	5/39 (12.8)	14 years
Gastrointestinal polyps	5 (6.2)	14/30 (46.7)	1 year
Thyroid nodule(s)	3 (3.7)	30/58 (51.7)	5 years
Thyroid carcinoma	1 (1.2)	5/16 (31.3)	12 years

^*Patients with documented clinical assessment of finding included.