Intellectual disability-balding-patella luxation-acromicria syndrome

Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.

Acromesomelia

Small hands and feet.


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PMID (PMCID)