Ciliary dyskinesia, primary, 47, and lissencephaly

Preferred Label : Ciliary dyskinesia, primary, 47, and lissencephaly;

Symbol : CILD47;

Type : Phenotype, molecular basis known;

Prefixed ID : #619466;

Details

Origin ID

619466;

UMLS CUI

C5561951;

Genes related to phenotype
- Tumor protein p73 [OMIM gene]
HPO term(s)
- Abnormal mucociliary clearance [HPO term]
- Agenesis of corpus callosum [HPO term]
- Atelectasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic otitis media [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Lissencephaly [HPO term]
- Neonatal onset [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory distress [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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