Holoprosencephaly 13, X-linked

Preferred Label : Holoprosencephaly 13, X-linked;

Symbol : HPE13;

CISMeF acronym : HPE13;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive; X-linked dominant;

Molecular basis : Caused by mutation in the stromal antigen 2 gene (STAG2, 300826.0001);

Prefixed ID : #301043;

Details

Origin ID

301043;

UMLS CUI

C5393308;

Genes related to phenotype
- Stromal antigen 2 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Alobar holoprosencephaly [HPO term]
- Aplasia of the nose [HPO term]
- Butterfly vertebrae [HPO term]
- Cleft palate [HPO term]
- Colpocephaly [HPO term]
- Cyclopia [HPO term]
- Double outlet right ventricle [HPO term]
- Duodenal atresia [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypoplastic left heart [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Median cleft lip [HPO term]
- Median cleft palate [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Optic nerve hypoplasia [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Seizure [HPO term]
- Semilobar holoprosencephaly [HPO term]
- Septo-optic dysplasia [HPO term]
- Solitary median maxillary central incisor [HPO term]
- Submucous cleft hard palate [HPO term]
- Thoracic hemivertebrae [HPO term]
- Ventricular septal defect [HPO term]
- Vertebral clefting [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Alobar holoprosencephaly [ORDO Disease]
- Semilobar holoprosencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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