Gene Symbol:
POMK
HGNC:26267
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8p11.21
Filters:

Congenital muscular dystrophy with cerebellar involvement classifications

congenital muscular dystrophy with cerebellar involvement
Submitted as: Orphanet:370959
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limb-girdle muscular dystrophy due to POMK deficiency classifications

limb-girdle muscular dystrophy due to POMK deficiency
Submitted as: Orphanet:445110
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 classifications

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Submitted as: OMIM:615249
AR
01/29/2021
Evaluated
03/31/2021
Submitted
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Submitted as: OMIM:615249
AR
06/25/2018
Evaluated
03/02/2021
Submitted

Muscular dystrophy-dystroglycanopathy, type A classifications

muscular dystrophy-dystroglycanopathy, type A
Submitted as: Orphanet:899
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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