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CCDC50
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Diseases
Chromosome 3q29 Deletion Syndrome
chromosome 3q29 deletion syndrome
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Chromosome 3q29 Deletion Syndrome
- Standard Disease Name
- chromosome 3q29 deletion syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C567184
- OMIM ID
- 609425
- UMLS ID
- C2674949
- HPO ID
- No data
Description and Extensions
- Description
- SNOMEDCT_US_2016_09_01:A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. It has been described in 23 patients. The clinical phenotype is extremely variable. The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly rotated ears and high nasal bridge. Autism and gait ataxia have been noted occasionally. The syndrome is caused by a recurrent deletion of the 3q subtelomeric region. Most of the deletions appear de novo but a few of them were inherited from mildly or non-affected parents.
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