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 1 - 10 of 20 in total
Gene ID Gene Symbol Description Source
246 ALOX15 arachidonate 15-lipoxygenase
414 ARSD arylsulfatase D
847 CAT catalase
1103 CHAT choline O-acetyltransferase
2026 ENO2 enolase 2
2203 FBP1 fructose-bisphosphatase 1
2348 FOLR1 folate receptor alpha
2350 FOLR2 folate receptor beta
3029 HAGH hydroxyacylglutathione hydrolase
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
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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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024