Intellectual disability-balding-patella luxation-acromicria syndrome
Synonyms: Scholte-Begeer-van Essen 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Advocacy Organizations
The Chandler Project
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DDX3X Foundation
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COMBINEDBrain Inc
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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