Congenital pontocerebellar hypoplasia type 1

Mrt32

Norman disease

Pch1

Pch1 - pontocerebellar hypoplasia type 1

Pch1a

Pontocerebellar hypoplasia with anterior horn cell disease

Pontocerebellar hypoplasia with infantile spinal muscular atrophy

Pontocerebellar hypoplasia, type 1a

Pontocerebellar hypoplasia type 1

Mental retardation, autosomal recessive 32

Mental retardation, autosomal recessive 32; mrt32

NCBI-RefSeq:  SLC25A46   (Solute carrier family 25 member 46)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  EXOSC3   (Exosome component 3)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  AGTPBP1   (ATP/GTP binding carboxypeptidase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  VRK1   (VRK serine/threonine kinase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  EXOSC9   (Exosome component 9)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  EXOSC8   (Exosome component 8)

External Links:  gnomAD browser   Ensembl   GeneCards