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Ontology Browser
Term:
Childhood-Onset Spasticity with Hyperglycinemia (DOID:9001337)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (0) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
hyperglycemia +     
Muscle Spasticity +     
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Childhood-Onset Spasticity with Hyperglycinemia  
An autosomal recessive disorder characterized by 'variant' nonketotic hyperglycinemia and onset of slowly progressive spasticity that results in impaired gait in the first decade of life. (OMIM)
Diaminopentanuria 
dystonia 9  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Fitzsimmons Walson Mellor Syndrome 
glucose intolerance  
Hengel-Maroofian-Schols syndrome  
Koone Rizzo Elias Syndrome 
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
Methylenetetrahydrofolate Reductase Deficiency  
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
neurodevelopmental disorder with spasticity and poor growth  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS  
Opticocochleodentate Degeneration 
Powell Venencie Gordon syndrome 
Seemanova Lesny Syndrome 
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
spastic ataxia +   
spastic paraplegia with deafness 
syndromic X-linked intellectual disability Turner type  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE  
Webb-Dattani Syndrome  
X-linked intellectual disability-psychosis-macroorchidism syndrome  

Synonyms
Exact Synonyms: SPAHGC
Primary IDs: OMIM:616859

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