12q15q21.1 microdeletion syndrome
Synonyms: Del(12)(q15)(q21.1) | Deletion 12q15q21.1 | Monosomy 12q15q21.1
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12 with a highly variable phenotype typically characterized by developmental delay learning disability intra-uterine and postnatal growth retardation and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.
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 April 2024
Newly diagnosed with
12q15q21.1 microdeletion syndrome?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Youth And Women for Opportunities Uganda-YWOU
Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices
Clinical Trials
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