TBCK deficiency

Synonym(s)
- Infantile hypotonia with psychomotor retardation and characteristic facies type 3
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- TBCK / TBC1 Domain Containing Kinase
  4q24
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- TBC1 domain-containing kinase
Disease group(s)
- 20.5 Disorders of autophagy