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 all 3 entries
Gene ID Gene Symbol Description Source
4204 MECP2 methyl-CpG binding protein 2
6792 CDKL5 cyclin dependent kinase like 5
9370 ADIPOQ adiponectin, C1Q and collagen domain containing
Displaying all 3 entries
Gene ID Gene Symbol Description Source
11450 Adipoq adiponectin, C1Q and collagen domain containing
17257 Mecp2 methyl CpG binding protein 2
382253 Cdkl5 cyclin dependent kinase like 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
29386 Mecp2 methyl CpG binding protein 2
The Human Phenotype Ontology
Displaying entries 11 - 20 of 50 in total
HPO ID HPO Term
HP:0001288 Gait disturbance
HP:0001319 Neonatal hypotonia
HP:0001332 Dystonia
HP:0001337 Tremor
HP:0001510 Growth delay
HP:0001773 Short foot
HP:0002066 Gait ataxia
HP:0002123 Generalized myoclonic seizure
HP:0002186 Apraxia
HP:0002194 Delayed gross motor development
Displaying 1 entry
Gene ID Gene Symbol Description
22854 NTNG1 netrin G1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024