Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
pontocerebellar hypoplasia type 16
Summary
- Synonym
-
- PCH16
- Definition
- A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2.
- Super Class
- autosomal recessive disease pontocerebellar hypoplasia
External Links
- Disease Ontology
- DOID:0112333
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UNW1 | Multiple inositol polyphosphate phosphatase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000369 | Low-set ears |
| HP:0002509 | Limb hypertonia |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0000448 | Prominent nose |
| HP:0012110 | Hypoplasia of the pons |
| HP:0002104 | Apnea |
| HP:0000648 | Optic atrophy |
| HP:0000639 | Nystagmus |
| HP:0003623 | Neonatal onset |
| HP:0002194 | Delayed gross motor development |
