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chromosome 22q13.3 deletion syndrome
Genetics:
- monosomy of SHANK3 gene may be responsible for phenotype
Clinical manifestations:
1) severe expressive language delay
2) mild mental retardation
3) hypotonia
4) increased tolerance to pain
5) dysplastic toenails
6) chewing behavior
7) dysplastic ears
8) pointed chin
9) dolichocephaly
10) ptosis
11) tendency to overheat
12) epicanthic folds
General
chromosome deletion syndrome
Database Correlations
OMIM 606232
References
OMIM :accession 606232