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Table 1 Main clinical features observed in Monosomy 18p syndrome

From: Monosomy 18p

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