Congenital disorder of glycosylation with defective fucosylation 2

Preferred Label : Congenital disorder of glycosylation with defective fucosylation 2;

Symbol : CDGF2;

CISMeF acronym : CDGF2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fucose kinase gene (FCSK, 608675.0001);

Prefixed ID : #618324;

Details

Origin ID

618324;

UMLS CUI

C5193028;

Genes related to phenotype
- Fucose kinase [OMIM gene]
HPO term(s)
- Abnormal myelination [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Congenital onset [HPO term]
- Epileptic encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Inability to walk [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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