Rett syndrome

Summary
Synonym
  • Rett's disorder
  • cerebroatrophic hyperammonemia
Definition
A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Super Class
pervasive developmental disorder
Related Genes
Displaying entries 11 - 20 of 20 in total
Gene ID Gene Symbol Description Source
3897 L1CAM L1 cell adhesion molecule
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
7915 ALDH5A1 aldehyde dehydrogenase 5 family member A1
7957 EPM2A EPM2A glucan phosphatase, laforin
8789 FBP2 fructose-bisphosphatase 2
8869 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
9370 ADIPOQ adiponectin, C1Q and collagen domain containing
22854 NTNG1 netrin G1
22933 SIRT2 sirtuin 2
23600 AMACR alpha-methylacyl-CoA racemase
Displaying 1 entry
Gene ID Gene Symbol Description Source
11450 Adipoq adiponectin, C1Q and collagen domain containing
The Human Phenotype Ontology
Displaying entries 31 - 40 of 50 in total
HPO ID HPO Term
HP:0002876 Episodic tachypnea
HP:0002882 Sudden episodic apnea
HP:0003763 Bruxism
HP:0003808 Abnormal muscle tone
HP:0004302 Functional motor deficit
HP:0004305 Involuntary movements
HP:0005484 Secondary microcephaly
HP:0007281 Developmental stagnation
HP:0007328 Impaired pain sensation
HP:0007824 Total ophthalmoplegia
Displaying 1 entry
Gene ID Gene Symbol Description
22854 NTNG1 netrin G1

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Last updated: August 19, 2024