cardiomyopathy |
dysmorphism |
edema |
failure to thrive |
feeding difficulties, poor feeding |
gastrointestinal dysmotility |
genital hypoplasia |
hypotonia |
joint hypermobilty, dislocations |
limb abnormalities, limb deformities |
mental retardation |
microcephaly (<2 SD for age) |
motor retardation |
onset, neonatal |
prematurity, premature delivery |
seizures |
short stature |
skeletal changes, skeletal abnormalities |
strabismus |