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lethal neonatal spasticity-epileptic encephalopathy syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life.
Mondo Term and Equivalent IDs
MONDO:0013784:  lethal neonatal spasticity-epileptic encephalopathy syndrome
EFO:0009144: 
Orphanet:435845: 
UMLS:C3281029: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found