Disease #00624

Official abbreviation RNS
Name syndrome, Raine (RNS)
OMIM ID 259775
Human Phenotype Ontology Project (HPO) HPO
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.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
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
Legend