chromosome 22q13.3 deletion syndrome
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Genetics
- monosomy of SHANK3 gene may be responsible for phenotype
Clinical manifestations
- severe expressive language delay
- mild mental retardation
- hypotonia
- increased tolerance to pain
- dysplastic toenails
- chewing behavior
- dysplastic ears
- pointed chin
- dolichocephaly
- ptosis
- tendency to overheat
- epicanthic folds