Search for a classification

Orphanet classification of rare inborn errors of metabolism

Rare inborn errors of metabolism ORPHA:68367
- Congenital disorder of glycosylation ORPHA:137
  - Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation ORPHA:309515
    - Autosomal recessive spastic paraplegia type 67 ORPHA:401820
    - CHIME syndrome ORPHA:3474
    - Early-onset epilepsy-intellectual disability-brain anomalies syndrome ORPHA:488635
    - GM3 synthase deficiency ORPHA:370933
    - Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ORPHA:83639
    - Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
    - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
    - Multiple congenital anomalies-hypotonia-seizures syndrome ORPHA:280633
    - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 ORPHA:300496
    - Paroxysmal nocturnal hemoglobinuria ORPHA:447

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.