Table 1.
Very frequent |
mental retardation (variable severity) |
speech delay |
short stature |
Frequent |
variable features of the holoprosencephaly (HPE) spectrum |
ptosis |
flat nasal bridge |
wide mouth with short upper lip |
small mandible |
excessive caries |
large, protruding ears |
short, webbed neck |
broad trunk |
pectus excavatum |
kyphoscoliosis |
Rare |
behavioral disorders |
autoimmune diseases |
alopecia |
dystonia |