All individuals with variants in gene FITM2

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00050107 - - - - yes Pakistan - - - - - SIDDIS New disorder: Siddiqi syndrome, a deafness-dystonia syndrome with ichthyosis and signs of sensory neuropapthy 1 1 Helger Yntema
00320136 - - - M - - - - - - - ? Microcephaly (HP:0000252); Hearing impairment (HP:0000365); Strabismus (HP:0000486); Amblyopia (HP:0000646); Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Short stature (HP:0004322); Dyskinesia (HP:0100660) 1 1 IMGAG
00444526 Pat28 PubMed: Riquin 2023 patient M - France - - - - - NDD Specific learning disability, Spasticity, Postural instability, Loss of speech, Loss of ability to walk, Global developmental delay, Dysphagia, Delayed gross motor development, Delayed ability to walk, Congenital sensorineural hearing impairment, Cerebellar ataxia associated with quadrupedal gait, Autistic behavior, Ataxia, Abnormal pyramidal sign 2 1 Johan den Dunnen
00471330 CB-DYS-118 PubMed: Riedhammer 2018, PubMed: Zech 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - DYT combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); segmental dystonia; no dystonic cerebral palsy 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.