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ODLURO
MCID: ODN024
MIFTS: 21
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O'donnell-Luria-Rodan Syndrome (ODLURO)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for O'donnell-Luria-Rodan Syndrome:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy de novo mutation (in most patients) variable phenotype and severity HPO:31
o'donnell-luria-rodan syndrome:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications: |
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OMIM :
56
O'Donnell-Luria-Rodan syndrome (ODLURO) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, variably delayed intellectual development, and subtle dysmorphic features. Some patients may have autism, seizures, hypotonia, and/or feeding difficulties (summary by O'Donnell-Luria et al., 2019). (618512)
MalaCards based summary : O'donnell-Luria-Rodan Syndrome, is also known as odluro. An important gene associated with O'donnell-Luria-Rodan Syndrome is KMT2E (Lysine Methyltransferase 2E). Affiliated tissues include eye, brain and skin, and related phenotypes are seizures and epileptic encephalopathy UniProtKB/Swiss-Prot : 73 O'Donnell-Luria-Rodan syndrome: A neurodevelopmental disorder characterized by global developmental delay, speech delay, intellectual disability and a subtle facial gestalt. Additional common features include autism, seizures, hypotonia and functional gastrointestinal abnormalities. |
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Human phenotypes related to O'donnell-Luria-Rodan Syndrome:31 (show all 25)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618512 |
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MalaCards organs/tissues related to O'donnell-Luria-Rodan Syndrome:40
Eye,
Brain,
Skin
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Articles related to O'donnell-Luria-Rodan Syndrome:
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ClinVar genetic disease variations for O'donnell-Luria-Rodan Syndrome:6
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Search
GEO
for disease gene expression data for O'donnell-Luria-Rodan Syndrome.
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