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Term:
guanidinoacetate methyltransferase deficiency (DOID:0050799)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
AGAT deficiency  
Akathisia, Drug-Induced 
Angelman syndrome  
benign shuddering attacks 
Beta-Ureidopropionase Deficiency  
choreatic disease +   
congenital mirror movement disorder +   
creatine transporter deficiency  
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Dyskinesias +   
dystonia +   
extrapyramidal and movement disease 
guanidinoacetate methyltransferase deficiency  
A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. (DO)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
intellectual disability-severe speech delay-mild dysmorphism syndrome  
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA  
Luscan-Lumish syndrome  
Mehes Syndrome 
multiple system atrophy +   
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT  
Non-Lissencephalic Cortical Dysplasia 
pantothenate kinase-associated neurodegeneration +   
Parkinsonian Disorders +   
progressive supranuclear palsy +   
Pronation-Supination Of The Forearm, Impairment Of 
Snijders Blok-Campeau Syndrome  
specific language impairment +   
speech-language disorder-1  
Stiff-Person syndrome  
Telfer Sugar Jaeger Syndrome 
tic disorder +   
Wilson disease +   

Synonyms
Exact Synonyms: CCDS2 ;   CEREBRAL CREATINE DEFICIENCY SYNDROME 2 ;   GAMT deficiency ;   creatine deficiency syndrome due to GAMT deficiency
Primary IDs: MESH:C537622
Alternate IDs: OMIM:612736 ;   RDO:0003494
Xrefs: GARD:2578
Definition Sources: https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.