LESKRES
MCID: LSS043
MIFTS: 23
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Lessel-Kreienkamp Syndrome (LESKRES)
Categories:
Eye diseases, Genetic diseases, Mental diseases, Oral diseases
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MalaCards integrated aliases for Lessel-Kreienkamp Syndrome:Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy de novo mutation (in most patients) variable phenotype and severity Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Eye diseases Oral diseases Mental diseases |
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 08-Dec-2022) 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 and eye, and related phenotypes are intellectual disability and seizure UniProtKB/Swiss-Prot: 73 An autosomal dominant disorder characterized by global developmental delay, intellectual disability of variable degree, and speech and language delay apparent from infancy or early childhood. Behavioral disorders are observed in most patients. Additional variable features include seizures, hypotonia, gait abnormalities, visual and cardiac defects, and non-specific facial dysmorphism. |
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Human phenotypes related to Lessel-Kreienkamp Syndrome:30 (show all 32)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:619149 (Updated 08-Dec-2022) |
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Organs/tissues related to Lessel-Kreienkamp Syndrome:
MalaCards :
Brain,
Eye
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Articles related to Lessel-Kreienkamp Syndrome:
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ClinVar genetic disease variations for Lessel-Kreienkamp Syndrome:5 (show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Lessel-Kreienkamp Syndrome:73 (show all 11)
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Search
GEO
for disease gene expression data for Lessel-Kreienkamp Syndrome.
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