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
autosomal recessive intellectual developmental disorder 57
Summary
- Definition
- An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081219
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96N66 | Lysophospholipid acyltransferase 7 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001290 | Generalized hypotonia |
| HP:0003593 | Infantile onset |
| HP:0001249 | Intellectual disability |
| HP:0002126 | Polymicrogyria |
| HP:0000252 | Microcephaly |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0001263 | Global developmental delay |
| HP:0008936 | Axial hypotonia |
| HP:0001347 | Hyperreflexia |
| HP:0000007 | Autosomal recessive inheritance |
