Prepair 1000+

Gene: UBA5

Green List (high evidence)

Developmental and epileptic encephalopathy-44 (DEE44) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms or myoclonus usually in the first weeks or months of life, up to about 12 months of age. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG in some patients shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding and poor overall growth with microcephaly, axial hypotonia with peripheral hypertonia or spasticity, abnormal movements, limited eye contact, and profoundly impaired intellectual development with absent language. Many patients require tube feeding, and some die in childhood.

Phenotypic severity correlated with residual enzyme activity (PMID: 27545681).

Few reports for the Spinocerebellar ataxia, autosomal recessive 24 (MIM#617133) phenotype, still provisional in OMIM.

Created: 6 Feb 2025, 3:27 a.m. | Last Modified: 6 Feb 2025, 3:27 a.m.

Panel Version: 1.1459

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 44, MIM#617132

Publications

• 27545681
• 27545681
• 27545674
• 32179706
• 26872069