/Seckel syndrome 2

Seckel syndrome 2

Rare Disease

MONDO:0011715

Also Known As

RBBP8 Seckel syndromeSCKL2Seckel syndrome 2Seckel syndrome caused by mutation in RBBP8Seckel syndrome type 2Seckel-type dwarfism 2microcephalic primordial dwarfism 2

Definition

Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

RBBP8 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:606744 ↗

GARD

GARD:15399 ↗

Related Diseases

Seckel syndrome 1

MONDO:0008869

Rare

microcephalic osteodysplastic primordial dwarfism type II

MONDO:0008872

Rare

Lowry-Wood syndrome

MONDO:0009191

Rare

Hallermann-Streiff syndrome

MONDO:0009318

Rare

hypoparathyroidism-retardation-dysmorphism syndrome

MONDO:0009426

Rare

microcephalic primordial dwarfism, Toriello type

MONDO:0009616

Rare

← Back to All Diseases