Disease #05526

Official abbreviation LWS
Name dysplasia, epiphyseal, microcephaly, nystagmus (Lowry Wood syndrome)
OMIM ID 226960
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 0 genes -
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Disease features -
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00207875 29265708-Pat1 PubMed: Farach 2018 adopted child F - - - - 0 - - LWS see paper; ... RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00207876 29265708-FamPat2/3 PubMed: Farach 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no - - - 0 - - LWS see paper; ... RNU4ATAC RNU4ATAC 3 2 Johan den Dunnen
00207878 30368667-Pat1 PubMed: Shelihan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Italy - - 0 - - LWS see paper; ... RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
00207879 30368667-Pat2 PubMed: Shelihan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Italy - - 0 - - LWS see paper; ... RNU4ATAC RNU4ATAC 2 1 Johan den Dunnen
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