Disease #00624

Official abbreviation RNS
Name syndrome, Raine (RNS)
OMIM ID 259775
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene FAM20C
Associated tissues -
Disease features -
Remarks autosomal recessive


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00264098 Pat1 PubMed: Simpson 2007 - M no - - <10d 0 - - RNS gestation 37w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, pulmonary hypoplasia FAM20C FAM20C 1 1 Johan den Dunnen
00264099 Pat2 PubMed: Simpson 2007, PubMed: Kingston 1991 - M yes United Kingdom (Great Britain) - <00y00m10d 0 - - RNS see paper; ..., gestation 37w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, no pulmonary hypoplasia FAM20C FAM20C 1 1 Johan den Dunnen
00264100 Pat3 PubMed: Simpson 2007 - M yes - - <10d 0 - - RNS gestation 38w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, pulmonary hypoplasia FAM20C FAM20C 1 1 Johan den Dunnen
00264101 Pat4 PubMed: Simpson 2007, PubMed: Al-Gazali 2003 - M no United Arab Emirates - >00y00m10d 0 - - RNS see paper; ..., gestation 36w; survived >10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, no cerebral calcifications, thoracic hypoplasia, no pulmonary hypoplasia FAM20C FAM20C 1 1 Johan den Dunnen
00264102 Pat5 PubMed: Simpson 2007, PubMed: Hulskamp 2003 2-generation family, 3 affected sibs, unaffected heterozygous carrier parents F yes Germany Turkey <00y00m10d 0 - - RNS see paper; ..., gestation 32w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, thoracic hypoplasia, pulmonary hypoplasia FAM20C FAM20C 1 3 Johan den Dunnen
00264103 Pat6 PubMed: Simpson 2007 - F no - - >10d 0 - - RNS gestation 38w; survived >10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, no thoracic hypoplasia, no pulmonary hypoplasia FAM20C FAM20C 2 1 Johan den Dunnen
00264104 Pat7 PubMed: Simpson 2007 - F no - - <10d 0 - - RNS gestation 32w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, thoracic hypoplasia, pulmonary hypoplasia FAM20C FAM20C 2 1 Johan den Dunnen
00264119 Case1 PubMed: Simpson 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) - - 0 - - RNS see paper; … FAM20C FAM20C 1 1 Johan den Dunnen
00264120 Case2 PubMed: Simpson 2009 2-generation family, 1 affected, unaffected heterozygous carrier fsther M no United Kingdom (Great Britain) - - 0 - - RNS see paper; … FAM20C FAM20C 2 1 Johan den Dunnen
00264121 FamPatII1/2 PubMed: Fradin 2011 2-generation family, 2 affected sister, unaffected heterozygous carrier parents F yes France - - 0 - - RNS see paper; … FAM20C FAM20C 1 2 Johan den Dunnen
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