Leukodystrophy, hypomyelinating, 18

Preferred Label : Leukodystrophy, hypomyelinating, 18;

Symbol : HLD18;

CISMeF acronym : HLD18;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the delta(4)-desaturase, sphingolipid 1 gene (DEGS1, 615843.0001);

Laboratory abnormalities : Increased plasma dihydroceramide (DhCer);

Prefixed ID : #618404;

Détails

Origin ID

618404;

UMLS CUI

C5193078;

Genes related to phenotype
- Delta(4)-desaturase, sphingolipid, 1 [OMIM gene]
HPO term(s)
- Abnormal motor nerve conduction velocity [HPO term]
- Abnormal periventricular white matter morphology [HPO term]
- Absent speech [HPO term]
- Atrophy/Degeneration affecting the brainstem [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Delayed speech and language development [HPO term]
- Demyelinating peripheral neuropathy [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dystonia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Gastrostomy tube feeding in infancy [HPO term]
- Global developmental delay [HPO term]
- Nystagmus [HPO term]
- Progressive [HPO term]
- Progressive spasticity [HPO term]
- Scoliosis [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Spastic tetraplegia [HPO term]
- Spasticity [HPO term]
- Variable expressivity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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