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PGM2L1

phosphoglucomutase 2 like 1

HCNC Approved Symbol
PGM2L1 (HGNC:20898)
Genomic Coordinates
11:74,330,316 - 74,398,433 (11q13.4)
Synonyms
FLJ32029, BM32A
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
620191AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the PGM2L1 gene.

Frequently observed phenotypes

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

No Results