Li-campeau syndrome

Preferred Label : Li-campeau syndrome;

Symbol : LICAS;

Type : Phenotype, molecular basis known;

Prefixed ID : #619189;

Origin ID

619189;

UMLS CUI

C5543068;

Genes related to phenotype
- Ubiquitin protein ligase e3 component n-recognin 7 [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Downslanted palpebral fissures [HPO term]
- Gastrointestinal dysmotility [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypertrichosis [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Micropenis [HPO term]
- Patellar hypoplasia [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Prominent forehead [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Sudden unexpected death in epilepsy [HPO term]
- Telecanthus [HPO term]
- Thick eyebrow [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Li-Campeau Syndrome [NCIt concept]