Table A1. .

Clinical Findings in the DGAP107 Subject at Age 14 Years

Characteristic	Patient Phenotype
Weight (kg)	40 (10th percentile)
Height (cm)	146 (<5th percentile)
Visual disorders	Daltonism, strabismus, hypermetropia
Limb defects	Mild syndactyly, clinodactyly, brachymetacarpia
Urinary tract defects	VUR grade IV, bilateral UVJ defects, unilateral megaureter
Learning disabilities	Global verbal retardation, verbal IQ 69, performance IQ 46a
Facial features	Blepharophimosis, low-set and dysplastic ears
Dental anomalies	Malformed lower incisor (“T” shape)
Genital anomalies	Complete left testicular agenesis
Neurological defects	Seizures, hyperactivity, sleep disorder
Orthopedic abnormality	Hyperlordosis
Growth retardation	Delayed puberty
Other abnormalities	Bilateral inguinal hernia

^aIQ = intelligence quotient.