14q11.2 microdeletion syndrome

14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.



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Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 22754240
(3385171)
 A child with mosaicism for deletion (14)(q11.2q13).
Gamage TH, Godapitiya IU, Nanayakkara S, Jayasekara RW, Dissanayake VH.
Indian J Hum Genet. 2012;18(1):130-3.
Microcephaly
2
(4.0%)		 25276227
(4180134)
 Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.
Salas-Labadia C, Lieberman E, Cruz-Alcivar R, Navarrete-Meneses P, Gomez S, Cantu-Reyna C, Buiting K, Duran-McKinster C, Perez-Vera P.
Mol Cytogenet. 2014;7(1):65.
Short stature
MEG3
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000232 Everted lower lip vermilion Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0002263 Exaggerated cupid's bow Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0011344 Severe global developmental delay Very frequent (99-80%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000340 Sloping forehead Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000490 Deeply set eye Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0000995 Melanocytic nevus Frequent (79-30%)
HP:0001629 Ventricular septal defect Frequent (79-30%)
HP:0001643 Patent ductus arteriosus Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0001863 Toe clinodactyly Frequent (79-30%)
HP:0002002 Deep philtrum Frequent (79-30%)
HP:0002553 Highly arched eyebrow Frequent (79-30%)
HP:0005338 Sparse lateral eyebrow Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID