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Pallister-Hall syndrome
Relevant markers:
Agenesis of lung/sAnteverted nostrilsBulbous nasal tipCentral polydactylyCleft epiglottisHypoplastic kidneysHypothalamic massMalar flatteningMicrognathia/retrognathiaPostaxial polydactyly of fingersSevere IUGR/SGASmall kidney/sTurned up noseUndescended testesLow conus medullarisParents markers:Ambiguous genitaliaBrain mass / tumorGenitalsHeartHoloprosencephalyIntrauterine growth retardation (IUGR/SGA/FGR)KidneysRenal agenesisPolydactyly of hand/sSyndactyly of fingers
Involved genes:
(gene — definition — chromosome)GLI3 — GLI-KRUPPEL FAMILY MEMBER 3 — 7p14.1 Other online databases: OrphaNet, OMIM, Geneva Foundation, Jablonski's Database References: 2010 Pediatr Neurol Case report Read on PubMed 2012 Eur J Med Genet Review Read on PubMed 2015 Am J Med Genet A Case report Read on PubMed Login for more details.