Holoprosencephaly type 2

Holoprosencephaly Type 2: A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene. ...1

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Holoprosencephaly type 2: A holoprosencephaly that has material basis in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. ...2

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Holoprosencephaly type 2: A holoprosencephaly that has material basis in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. ...3

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Symptoms of Holoprosencephaly type 2

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of Holoprosencephaly type 2

Modes of inheritance: Heterogeneous (HPO) Sporadic (HPO, OMIM) Autosomal dominant inheritance (HPO) ...Source: GTR (NCBI/NIH)4 ...

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Diagnosis

See also related information on diagnosis:

Treatments

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Causes

See also causal information:

Names and Terminology

Synonyms: Holoprosencephaly ...Source: GTR (NCBI/NIH)5 ...

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References

  1. Source: NCI Thesaurus
  2. Source: Disease Ontology
  3. Source: Monarch Initiative
  4. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1834877/ 
  5. ibid.

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