MCID: SYM015
MIFTS: 13
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Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers
Categories:
Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers:
Name: Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers
58
Characteristics:Orphanet epidemiological data:58
symptomatic form of coffin-lowry syndrome in female carriers
Inheritance: Autosomal dominant,Not applicable; Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Anatomical: Neuronal diseases Endocrine diseases
ICD10:
33
Orphanet: 58
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MalaCards based summary :
Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers An important gene associated with Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers is RPS6KA3 (Ribosomal Protein S6 Kinase A3). Affiliated tissues include heart, and related phenotypes are large hands and tapered finger
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Human phenotypes related to Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers:58 31 (show all 23)
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MalaCards organs/tissues related to Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers:40
Heart
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Search
GEO
for disease gene expression data for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers.
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