Global developmental delay-osteopenia-ectodermal defect syndrome

This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 39

HPO ID Term Frequency
HP:0000708 Behavioral abnormality Very frequent (99-80%)
HP:0000718 Aggressive behavior Very frequent (99-80%)
HP:0000736 Short attention span Very frequent (99-80%)
HP:0000938 Osteopenia Very frequent (99-80%)
HP:0001072 Thickened skin Very frequent (99-80%)
HP:0001388 Joint laxity Very frequent (99-80%)
HP:0003127 Hypocalciuria Very frequent (99-80%)
HP:0007018 Attention deficit hyperactivity disorder Very frequent (99-80%)
HP:0007387 Hypoplastic sweat glands Very frequent (99-80%)
HP:0007483 Depigmentation/hyperpigmentation of skin Very frequent (99-80%)
HP:0010719 Abnormality of hair texture Very frequent (99-80%)
HP:0011125 Abnormality of dermal melanosomes Very frequent (99-80%)
HP:0011368 Epidermal thickening Very frequent (99-80%)
HP:0025080 Orthokeratotic hyperkeratosis Very frequent (99-80%)
HP:0025160 Abnormal temper tantrums Very frequent (99-80%)
HP:0100710 Impulsivity Very frequent (99-80%)
HP:0000750 Delayed speech and language development Frequent (79-30%)
HP:0002353 EEG abnormality Frequent (79-30%)
HP:0000233 Thin vermilion border Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000337 Broad forehead Occasional (29-5%)
HP:0000343 Long philtrum Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000431 Wide nasal bridge Occasional (29-5%)
HP:0000574 Thick eyebrow Occasional (29-5%)
HP:0000664 Synophrys Occasional (29-5%)
HP:0000689 Dental malocclusion Occasional (29-5%)
HP:0001593 Maxillary lateral incisor microdontia Occasional (29-5%)
HP:0001653 Mitral regurgitation Occasional (29-5%)
HP:0003307 Hyperlordosis Occasional (29-5%)
HP:0003691 Scapular winging Occasional (29-5%)
HP:0005180 Tricuspid regurgitation Occasional (29-5%)
HP:0011065 Conical incisor Occasional (29-5%)
HP:0011074 Localized hypoplasia of dental enamel Occasional (29-5%)
HP:0011220 Prominent forehead Occasional (29-5%)
HP:0012365 Hypophosphaturia Occasional (29-5%)
HP:0012520 Perivascular spaces Occasional (29-5%)
HP:0040022 Clinodactyly of the 2nd finger Occasional (29-5%)
HP:0040025 Clinodactyly of the 4th finger Occasional (29-5%)


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