Leukoencephalopathy, progressive, infantile-onset, with or without deafness

Preferred Label : Leukoencephalopathy, progressive, infantile-onset, with or without deafness;

Symbol : LEPID;

Type : Phenotype, molecular basis known;

Prefixed ID : #619147;

Détails

Origin ID

619147;

UMLS CUI

C5542996;

Genes related to phenotype
- Lysyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Akinesia [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral calcification [HPO term]
- Congenital onset [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Death in childhood [HPO term]
- Decreased CSF biopterin level [HPO term]
- Decreased activity of mitochondrial respiratory chain [HPO term]
- Delayed ability to walk [HPO term]
- Delayed skeletal maturation [HPO term]
- Developmental regression [HPO term]
- Failure to thrive [HPO term]
- Generalized tonic seizure [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hyperalaninemia [HPO term]
- Hypertonia [HPO term]
- Hypochromic microcytic anemia [HPO term]
- Hypospadias [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Ketosis [HPO term]
- Leukoencephalopathy [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Mild proteinuria [HPO term]
- Narrow mouth [HPO term]
- Nystagmus [HPO term]
- Renal insufficiency [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe global developmental delay [HPO term]
- Small for gestational age [HPO term]
- Spastic tetraplegia [HPO term]
- Vomiting [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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