Upper limb defect-eye and ear abnormalities syndrome

Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.



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

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0000567 Chorioretinal coloboma Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0009738 Abnormality of the antihelix Very frequent (99-80%)
HP:0009739 Hypoplasia of the antihelix Very frequent (99-80%)
HP:0009778 Short thumb Very frequent (99-80%)
HP:0010049 Short metacarpal Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000518 Cataract 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