Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Cleft lip/palate

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.

Hemolytic anemia

A type of anemia caused by premature destruction of red blood cells (hemolysis).

Total: 1

(per page)

PMID (PMCID)
28266204	FEMALE
	Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.
	Gokturk B, Reisli , Calskan U, Oleaga-Quintas C, Deswarte C, Turul-Ozgur T, Burgucu D, Migaud M, Casanova JL, Picard C, Bustamante J. Turk J Pediatr. 2016;58(3):331-336.
	In addition she had hemolytic anemia and midline defects like cleft lip and palate which have not been reported in a patient with MSMD in the literature prior to this case report.