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

Renal agenesis

Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s).

Median cleft lip

A type of cleft lip presenting as a midline (median) gap in the upper lip.

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PMID (PMCID)
6686259	MIXED_SAMPLE	Child
	Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?
	Mattei JF, Ayme S. J Med Genet. 1983;20(6):433-5.
	Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft lip, fatty hamartomas on the dorsum of the tongue, conductive hearing loss, and unilateral or bilateral renal agenesis.