Heimler syndrome
http://dbpedia.org/resource/Heimler_syndrome an entity of type: Thing
Heimler syndrome is a rare autosomal recessive condition characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities and occasional or late-onset retinal pigmentation
rdf:langString
rdf:langString
Heimler syndrome
rdf:langString
Heimler syndrome
rdf:langString
Heimler syndrome
xsd:integer
57211443
xsd:integer
1110900391
xsd:integer
234580
rdf:langString
Autosomal recessive pattern is the inheritance manner of this condition
rdf:langString
Mutations in the PEX1 or PEX6 genes
rdf:langString
June 2018
rdf:langString
There are many sections but detail is lacking and they could be expanded
rdf:langString
Heimler syndrome is a rare autosomal recessive condition characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities and occasional or late-onset retinal pigmentation
xsd:nonNegativeInteger
3358
xsd:integer
234580