Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
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Enzyme
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Query: UMLS:C0026827 (
hypotonia
)
5,860
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Wiedemann-Steiner syndrome (
WWS
) is a rare disorder characterized by
hypotonia
, postnatal growth restriction, striking facial dysmorphism, and hirsutism. It is caused by heterozygous pathogenic variants in KMT2A. This gene has an established role in histone methylation, which explains the overlap of
WWS
with syndromes caused by genes involved in chromatin remodeling. We describe an infant with a novel single base pair deletion in KMT2A with features consistent with
WWS
, as well as additional features of stenosis of aqueduct of Sylvius and broad toes. The usefulness of Face2Gene as a tool for identification of dysmorphology syndromes is discussed, as in this patient, it suggested
WWS
as the top candidate disorder. To the best of our knowledge, this is the first patient of
WWS
reported from India, with a novel genotype and expanded phenotype.
...
PMID:Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India. 3212 42
