Baraitser-Winter syndrome type 1

Baraitser-Winter syndrome type 1: See http://www.omim.org/entry/243310 ...1

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Symptoms of Baraitser-Winter syndrome type 1

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of Baraitser-Winter syndrome type 1

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) Autosomal dominant inheritance (HPO) ...Source: GTR (NCBI/NIH)2 ...

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Names and Terminology

Synonyms: BARAITSER-WINTER SYNDROME 1, ATYPICAL ; CEREBROOCULOFACIAL LYMPHATIC SYNDROME ; Cerebro-fronto-facial Syndrome ; Cerebrofrontofacial syndrome ; FRYNS-AFTIMOS SYNDROME ; Iris coloboma with ptosis, hypertelorism, and mental retardation ...3

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References

  1. Source: Monarch Initiative
  2. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1855722/ 
  3. ibid.

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