Disease #01681 (MOPD1 (dwarfism, primordial, osteodysplastic, microcephalic, type 1 (MOPD-1, Taybi-Linder syndrome)), OMIM:210710)

Official abbreviation MOPD1
Name dwarfism, primordial, osteodysplastic, microcephalic, type 1 (MOPD-1, Taybi-Linder syndrome)
OMIM ID 210710
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene RNU4ATAC
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00409538 K6089 PubMed: Oishi 2018 - F - Japan - - 0 - - MOPD1 best corrected visual acuity: 1.2; electroretinogram , rod: mildly reduced, cone: mildly reduced CYP4V2 CYP4V2 2 1 LOVD
Legend   How to query