Growth delay due to insulin-like growth factor I resistance

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).



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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: 16

HPO ID Term Frequency
HP:0001510 Growth delay Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0000232 Everted lower lip vermilion Frequent (79-30%)
HP:0000233 Thin vermilion border Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000319 Smooth philtrum Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000455 Broad nasal tip Frequent (79-30%)
HP:0000767 Pectus excavatum Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001270 Motor delay Frequent (79-30%)
HP:0004279 Short palm Frequent (79-30%)
HP:0006610 Wide intermamillary distance Frequent (79-30%)
HP:0030084 Clinodactyly Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
IGF1R insulin like growth factor 1 receptor 3480