Microcephalic primordial dwarfism, Toriello type

A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.



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

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000518 Cataract Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0002205 Recurrent respiratory infections Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002850 Decreased circulating total IgM Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0004315 Decreased circulating IgG level Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0006297 Hypoplasia of dental enamel Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001875 Neutropenia Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002714 Downturned corners of mouth 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