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Holoprosencephaly 6(HPE6)

MedGen UID:
342979
Concept ID:
C1853830
Disease or Syndrome
Synonym: HPE6
 
Monarch Initiative: MONDO:0011616
OMIM®: 605934

Definition

A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3. [from MONDO]

Professional guidelines

PubMed

Arroyo MS, Hopkin RJ, Nagaraj UD, Kline-Fath B, Venkatesan C
J Perinatol 2019 Aug;39(8):1072-1077. Epub 2019 Jun 18 doi: 10.1038/s41372-019-0407-9. PMID: 31213636

Recent clinical studies

Etiology

Arroyo MS, Hopkin RJ, Nagaraj UD, Kline-Fath B, Venkatesan C
J Perinatol 2019 Aug;39(8):1072-1077. Epub 2019 Jun 18 doi: 10.1038/s41372-019-0407-9. PMID: 31213636

Diagnosis

Arroyo MS, Hopkin RJ, Nagaraj UD, Kline-Fath B, Venkatesan C
J Perinatol 2019 Aug;39(8):1072-1077. Epub 2019 Jun 18 doi: 10.1038/s41372-019-0407-9. PMID: 31213636

Prognosis

Arroyo MS, Hopkin RJ, Nagaraj UD, Kline-Fath B, Venkatesan C
J Perinatol 2019 Aug;39(8):1072-1077. Epub 2019 Jun 18 doi: 10.1038/s41372-019-0407-9. PMID: 31213636

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