Leukodystrophy, hypomyelinating, 21

Preferred Label : Leukodystrophy, hypomyelinating, 21;

Symbol : HLD21;

Type : Phenotype, molecular basis known;

Prefixed ID : #619310;

Details

Origin ID

619310;

UMLS CUI

C5543334;

Genes related to phenotype
- Polymerase III, rna, subunit k [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Ataxia [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Coma [HPO term]
- Corpus callosum atrophy [HPO term]
- Cryptorchidism [HPO term]
- Delayed ability to sit [HPO term]
- Delayed speech and language development [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties in infancy [HPO term]
- Growth delay [HPO term]
- Hypodontia [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Infantile onset [HPO term]
- Ketosis [HPO term]
- Mental deterioration [HPO term]
- Microcephaly [HPO term]
- Motor regression [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Tetraparesis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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