Terminology Service for NFDI4Health

glycerol kinase deficiency, infantile form

Go to external page http://purl.obolibrary.org/obo/MONDO_0017294


Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy. [ ]

Term info

Label

glycerol kinase deficiency, infantile form

database cross reference
Subsets

ordo_clinical_subtype

exactMatch

http://purl.obolibrary.org/obo/Orphanet_284408

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018459

id

MONDO:0017294

narrowMatch

https://icd.codes/icd10cm/E74.8

Term relations