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MCID: CHR390
MIFTS: 23
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Chromosome 14q11-Q22 Deletion Syndrome
Categories:
Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Chromosome 14q11-Q22 Deletion Syndrome:
Characteristics:Orphanet epidemiological data:60
14q11.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:58
Inheritance:
isolated cases
Miscellaneous:
contiguous gene deletion syndrome variable features HPO:33Classifications:
ICD10:
35
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Disease Ontology
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12
A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has material basis in isolated cases of partial deletion of the long arm of chromosome 14.
MalaCards based summary : Chromosome 14q11-Q22 Deletion Syndrome, is also known as 14q11.2 microdeletion syndrome, and has symptoms including seizures and muscle spasticity. An important gene associated with Chromosome 14q11-Q22 Deletion Syndrome is DEL14Q11Q22 (Chromosome 14q11-Q22 Deletion Syndrome). Affiliated tissues include eye, and related phenotypes are hypertelorism and depressed nasal bridge
Description from OMIM:
613457
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Human phenotypes related to Chromosome 14q11-Q22 Deletion Syndrome:60 33 (show all 49)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:613457UMLS symptoms related to Chromosome 14q11-Q22 Deletion Syndrome:seizures, muscle spasticity |
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Genetic tests related to Chromosome 14q11-Q22 Deletion Syndrome:
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MalaCards organs/tissues related to Chromosome 14q11-Q22 Deletion Syndrome:42
Eye
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Genes related to Chromosome 14q11-Q22 Deletion Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Chromosome 14q11-Q22 Deletion Syndrome.
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