GMPPB - Gene browser

GMPPB

GDP-mannose pyrophosphorylase B

HCNC Approved Symbol: GMPPB (HGNC:22932)
Genomic Coordinates: 3:49,719,916 - 49,723,951 (3p21.31)
Synonyms: KIAA1851
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the GMPPB gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

08
Patient count

Axial hypotonia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Global development delay: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Microcephaly: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Seizures: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Gait disturbance: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)