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Paternal uniparental disomy of chromosome 14
1 OMIM reference -
3 associated genes
11 connected diseases
No signs/symptoms info
Disease Type of connection
Maternal uniparental disomy of chromosome 14
Behavioral variant of frontotemporal dementia
CLN11 disease
Progressive non-fluent aphasia
Semantic dementia
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Synonym(s):
- UPD(14)pat
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C536471
Gene symbol UniProt reference OMIM reference
DLK1 P80370176290
MEG3 Q9UI56605636
RTL1 A6NKG5611896
No signs/symptoms info available.