Developmental and Epileptic Encephalopathy 73 (DEE73)

External Ids:

Disease Ontology 12 DOID:0112209 OMIM® 57 618379 OMIM Phenotypic Series 57 PS308350 MeSH 44 D013036

Orphanet 58 ORPHA544503 MedGen 41 C5193065 CN258273 SNOMED-CT via HPO 68 111266001 123983008 128306009 135810007 162221009 193570009 203598005 204043002 221360009 230145002 247053007 248200007 249310005 249768009 263681008 267036007 271611007 271825005 298193009 31216003 32003007 36440009 385522000 396232000 397790002 398206004 398302004 413924001 41581000 432788009 443710002 445124008 48334007 52781008 54200006 55033002 56731001 57048009 60700002 64217002 64969001 68574006 699439001 7890003 88565003 95646004 more

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-73 (DEE73) is a neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals meet almost no developmental milestones: they have hypotonia and are unable to walk, speak, or feed properly. They have poor overall growth with small head circumference and dysmorphic facial features. Additional manifestations include cortical visual impairment with roving eye movements and variable hearing loss (summary by Edvardson et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618379) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 73, is also known as developmental and epileptic encephalopathy, 73. An important gene associated with Developmental and Epileptic Encephalopathy 73 is RNF13 (Ring Finger Protein 13). Affiliated tissues include eye and bone, and related phenotypes are spasticity and failure to thrive

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has material basis in heterozygous mutation in RNF13 on chromosome 3q25.1.

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 73: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE73 is an autosomal dominant form with onset at birth.

Clinical features from OMIM®:

618379 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 73

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 73.