Autosomal dominant deafness-onychodystrophy syndrome

Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.



Input patient's signs and symptoms


Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(35.3%)		 24421866
 A Danish family with dominant deafness-onychodystrophy syndrome.
Vind-Kezunovic D, Torring PM.
J Dermatol Case Rep. 2013;7(4):125-8.
Brachydactyly
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0001817 Absent fingernail Very frequent (99-80%)
HP:0008625 Severe sensorineural hearing impairment Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000677 Oligodontia Frequent (79-30%)
HP:0001199 Triphalangeal thumb Frequent (79-30%)
HP:0001802 Absent toenail Frequent (79-30%)
HP:0008386 Aplasia/Hypoplasia of the nails Frequent (79-30%)
HP:0000268 Dolichocephaly Occasional (29-5%)
HP:0000348 High forehead Occasional (29-5%)
HP:0001057 Aplasia cutis congenita Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001763 Pes planus Occasional (29-5%)
HP:0001800 Hypoplastic toenails Occasional (29-5%)
HP:0001999 Abnormal facial shape Occasional (29-5%)
HP:0002465 Poor speech Occasional (29-5%)
HP:0009778 Short thumb Occasional (29-5%)
HP:0012554 Absent thumbnail Occasional (29-5%)
HP:0200104 Absent fifth fingernail Occasional (29-5%)
HP:0200141 Small, conical teeth Occasional (29-5%)


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
ATP6V1B2 ATPase H+ transporting V1 subunit B2 526