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LESKRES
MCID: LSS043
MIFTS: 14
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Lessel-Kreienkamp Syndrome (LESKRES)
Categories:
Genetic diseases
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MalaCards integrated aliases for Lessel-Kreienkamp Syndrome:
Name: Lessel-Kreienkamp Syndrome
57
6
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy de novo mutation (in most patients) variable phenotype and severity Classifications: |
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OMIM® :
57
Lessel-Kreienkamp syndrome (LESKRES) is a neurodevelopmental disorder characterized by global developmental delay with intellectual disability and speech and language delay apparent from infancy or early childhood. The severity of the disorder is highly variable: some patients have mildly delayed walking and mild cognitive deficits, whereas others are nonambulatory and nonverbal. Most have behavioral disorders. Additional features, including seizures, hypotonia, gait abnormalities, visual defects, cardiac defects, and nonspecific dysmorphic facial features may also be present (summary by Lessel et al., 2020). (619149) (Updated 05-Mar-2021)
MalaCards based summary : Lessel-Kreienkamp Syndrome, is also known as leskres. An important gene associated with Lessel-Kreienkamp Syndrome is AGO2 (Argonaute RISC Catalytic Component 2). Affiliated tissues include brain. |
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Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:619149 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Lessel-Kreienkamp Syndrome:40
Brain
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Articles related to Lessel-Kreienkamp Syndrome:
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Genes related to Lessel-Kreienkamp Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lessel-Kreienkamp Syndrome:6
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Search
GEO
for disease gene expression data for Lessel-Kreienkamp Syndrome.
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