" /> Pterygia, impaired intellectual development, and distinctive craniofacial features - CISMeF





Preferred Label : Pterygia, impaired intellectual development, and distinctive craniofacial features;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Haspeslagh syndrome; Pterygia, mental retardation, and distinctive craniofacial features;

Inheritance : Autosomal dominant;

Laboratory abnormalities : High resolution G- and T- banding karyotype shows reciprocal translocation of distal 9p-6q;

Prefixed ID : #177980;

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29/07/2025


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