Microcephaly-glomerulonephritis-marfanoid habitus syndrome

This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.



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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: 11

HPO ID Term Frequency
HP:0000099 Glomerulonephritis Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001388 Joint laxity Frequent (79-30%)
HP:0001519 Disproportionate tall stature Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002342 Intellectual disability, moderate Frequent (79-30%)
HP:0002942 Thoracic kyphosis Frequent (79-30%)
HP:0011451 Congenital microcephaly Frequent (79-30%)
HP:0012622 Chronic kidney disease 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