12q15q21.1 microdeletion syndrome
Name: |
12q15q21.1 microdeletion syndrome
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Description: |
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.
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ORPHAcode: |
289513
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Synonyms: |
Del(12)(q15)(q21.1)
Deletion 12q15q21.1
Monosomy 12q15q21.1
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XREF(s): | |
Analyte(s): | |
Created: |
04 Feb 2020 - 15:13
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Changed: |
22 Jun 2023 - 16:14
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