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Ontology Browser

Term:
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET (DOID:9006671)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Ataxia +     
Muscle Hypotonia +     
Tremor +     
3-M syndrome +   
Abetalipoproteinemia Neuropathy  
adult-onset ataxia and polyneuropathy  
Al-Raqad Syndrome  
Alazami-Yuan Syndrome  
Allan-Herndon-Dudley syndrome  
Arts syndrome  
Ataxia with Fasciculations 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
Ataxia, Deafness, and Cardiomyopathy 
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET  
This disease is a neurodevelopmental disorder characterized by delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Affected individuals have global developmental delay with mildly impaired intellectual development and speech delay or learning disabilities.
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
Ataxia-Microcephaly-Cataract Syndrome 
ataxic cerebral palsy 
Atonic-Astatic Syndrome of Foerster 
Au-Kline Syndrome  
autosomal recessive intellectual developmental disorder 73  
Bangstad Syndrome 
Behr syndrome  
Bhaskar Jagannathan Syndrome 
Birk-Barel syndrome  
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME  
CANOMAD Syndrome 
Carnitine Acetyltransferase Deficiency  
Cataract Ataxia Deafness 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
Christianson syndrome  
COACH syndrome +   
coenzyme Q10 deficiency disease +   
Cohen syndrome  
combined oxidative phosphorylation deficiency 3  
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
congenital myopathy 16  
De Hauwere syndrome  
Deafness Hyperuricemia Neurologic Ataxia 
Der Kaloustian Mcintosh Silver Syndrome 
DeSanto-Shinawi syndrome  
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities  
developmental delay, hypotonia, and impaired language  
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES  
Diaminopentanuria 
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Emanuel Syndrome 
essential tremor +   
Ethanolaminosis 
familial isolated deficiency of vitamin E  
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME  
FG syndrome +   
fragile X-associated tremor/ataxia syndrome  
fumarase deficiency  
Gait Ataxia +   
Geniospasm 
German Syndrome 
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
glycogen storage disease IX +   
Glycosylphosphatidylinositol Biosynthesis Defect 25  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
hereditary ataxia +   
hypomyelinating leukodystrophy 7  
hypotonia, ataxia, and delayed development syndrome  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
Infantile Hypotonia with Psychomotor Retardation +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies  
intellectual disability and myopathy syndrome  
Joubert syndrome 10  
Joubert syndrome 3  
Joubert syndrome 5  
Joubert syndrome 7  
Ketoadipicaciduria 
Kilquist Syndrome  
Leukoencephalopathy with Ataxia  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Myokymia 1  
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome  
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
neurodevelopmental disorder with eye movement abnormalities and ataxia  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES  
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES  
Neuronal Ceroid Lipofuscinosis 15  
NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE  
optic atrophy 10  
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
osteosclerotic metaphyseal dysplasia  
Partington syndrome  
PEHO-like syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
PHARC syndrome  
Primary Orthostatic Tremor 
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
progressive myoclonus epilepsy 1B  
Qazi Markouizos syndrome 
RADIO-TARTAGLIA SYNDROME  
Reardon Wilson Cavanagh Syndrome 
Retinopathy-sensory neuropathy syndrome  
Richards-Rundle Syndrome 
scalp-ear-nipple syndrome  
Sensory Ataxia, Autosomal Dominant 
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
Snijders Blok-Fisher Syndrome  
Spastic Paraplegia, Ataxia, and Mental Retardation 
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE  
Spinocerebellar Ataxias +   
spondyloepimetaphyseal dysplasia, Genevieve-type  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Tapetoretinal Degeneration with Ataxia 
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1  
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
Tryptophanuria with Dwarfism 
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT  
WHITE-KERNOHAN SYNDROME  

Synonyms
Exact Synonyms: ATITHS ;   POU4F1-RELATED CONDITION ;   childhood-onset ataxia, intention tremor, and hypotonia syndrome
Primary IDs: MIM:619352
Definition Sources: MIM:619352

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