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Craniofacial "dysmorphism," skeletal "anomalies," impaired intellectual development syndrome 2
Did you mean Craniofacial "dysmorphic," skeletal "anomalies," impaired intellectual development syndrome 2?
- ... Cerebrofaciothoracic dysplasia National Organization for Rare ... autosomal recessive cerebrofaciothoracic dysplasia. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. ...
- ... many of the characteristic features of 2q37 deletion syndrome, such as intellectual ... from birth. Affected individuals often have intellectual disability, ...
