Developmental malformations-deafness-dystonia syndrome

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.



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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: 21

HPO ID Term Frequency
HP:0000158 Macroglossia Very frequent (99-80%)
HP:0000202 Oral cleft Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000882 Hypoplastic scapulae Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001268 Mental deterioration Very frequent (99-80%)
HP:0002015 Dysphagia Very frequent (99-80%)
HP:0002571 Achalasia Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002721 Immunodeficiency Very frequent (99-80%)
HP:0002808 Kyphosis Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0007325 Generalized dystonia Very frequent (99-80%)
HP:0008796 Externally rotated hips Very frequent (99-80%)
HP:0100613 Death in early adulthood Very frequent (99-80%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000618 Blindness 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
ACTB actin beta 60