Paternal 20q13.2q13.3 microdeletion syndrome

Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000414 Bulbous nose Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0000963 Thin skin Very frequent (99-80%)
HP:0001010 Hypopigmentation of the skin Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0008070 Sparse hair Very frequent (99-80%)
HP:0010781 Skin dimple Very frequent (99-80%)
HP:0011343 Moderate global developmental delay Very frequent (99-80%)
HP:0011968 Feeding difficulties Very frequent (99-80%)
HP:0100578 Lipoatrophy Very frequent (99-80%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Very frequent (99-80%)
HP:0001562 Oligohydramnios Frequent (79-30%)
HP:0002098 Respiratory distress 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