GenTIGSA Gene Database on Rare Genetic Disorders
Hypoparathyroidism-retardation-dysmorphism Syndrome  
Disease Aliases (21)

Hrd

Hrd syndrome

Hrds

Hypoparathyroidism with short stature, mental retardation, and seizures

Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay

Hypoparathyroidism - intellectual disability - dysmorphism

Hypoparathyroidism - short stature - intellectual disability - seizures

Hypoparathyroidism with short stature, intellectual disability and seizures

Hypoparathyroidism with short stature, mental retardation and seizures

Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay

Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Hypoparathyroidism-short stature-intellectual disability-seizures syndrome

Middle-east syndrome

Richadson-kirk syndrome

Richardson-kirk syndrome

Sanjad-sakati syndrome

Sss

Hypoparathyroidism with short stature, intellectual disability, and seizures

Hypoparathyroidism-retardation-dysmorphism syndrome

Hypoparathyroidism-retardation-dysmorphism syndrome; hrd

Hypoparathyroidism-retardation-dysmorphism syndrome; hrds

Associated Genes (1)
 

NCBI-RefSeq:  TBCE   (Tubulin folding cofactor E)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Hypoparathyroidism-retardation-dysmorphism syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations