Leukodystrophy, hypomyelinating, 22

Preferred Label : Leukodystrophy, hypomyelinating, 22;

Symbol : HLD22;

Type : Phenotype, molecular basis known;

Prefixed ID : #619328;

Details

Origin ID

619328;

UMLS CUI

C5543406;

Genes related to phenotype
- Claudin 11 [OMIM gene]
HPO term(s)
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- CNS hypomyelination [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Flexion contracture [HPO term]
- Hypermetropia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, borderline [HPO term]
- Lower limb hyperreflexia [HPO term]
- Lower limb hypertonia [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Pes planus [HPO term]
- Short neck [HPO term]
- Strabismus [HPO term]
- Upper limb hypertonia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomyelinating Leukodystrophy-22 [NCIt concept]

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