Microcephalic primordial dwarfism-insulin resistance syndrome




Input patient's signs and symptoms


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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: 9

HPO ID Term Frequency
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000831 Insulin-resistant diabetes mellitus Very frequent (99-80%)
HP:0001397 Hepatic steatosis Very frequent (99-80%)
HP:0002155 Hypertriglyceridemia Very frequent (99-80%)
HP:0008193 Primary gonadal insufficiency Very frequent (99-80%)
HP:0008890 Severe short-limb dwarfism Very frequent (99-80%)
HP:0010620 Malar prominence Very frequent (99-80%)
HP:0000541 Retinal detachment Occasional (29-5%)
HP:0007875 Congenital blindness Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase 286053
XRCC4 X-ray repair cross complementing 4 7518