Regression

Gene: ADPRHL2

Green List (high evidence)

Comment when marking as ready: New HGNC approved name is ADPRS.

Created: 12 Sep 2020, 1:43 a.m. | Last Modified: 12 Sep 2020, 1:43 a.m.

Panel Version: 0.157

14 families reported, onset is in the first years of life following normal early development. Patients have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.
Sources: Expert list

Created: 6 Jul 2020, 4:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM# 618170

Publications

• 30100084
• 30401461