Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr9:139313082
- GRCh38:
- Chr9:136418630
| PMPCA | G356S, G225S, G256S | Normal pressure hydrocephalus, Optic atrophy, Diffuse cerebellar atrophy,
Chronic lactic acidosis, Restrictive external ophthalmoplegia, Infantile muscular hypotonia,
Severe global developmental delay, Global brain atrophy, Bilateral ptosis,
Hypoventilation, BlindnessFailure to thrive,
Hypertrophic cardiomyopathy, ...see more | Pathogenic
(Jan 22, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr9:139313299
- GRCh38:
- Chr9:136418847
| PMPCA | A377T, A277T, A246T | Autosomal recessive spinocerebellar ataxia 2, Normal pressure hydrocephalus, Optic atrophy,
Diffuse cerebellar atrophy, Chronic lactic acidosis, Restrictive external ophthalmoplegia,
Infantile muscular hypotonia, Severe global developmental delay, Global brain atrophy,
Bilateral ptosis, HypoventilationBlindness,
Failure to thrive, Hypertrophic cardiomyopathy, ...see more | Pathogenic
(Feb 10, 2016) | no assertion criteria provided |