Parent Terms |
Term With Siblings |
Child Terms |
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Abetalipoproteinemia Neuropathy
adult-onset ataxia and polyneuropathy
Allan-Herndon-Dudley 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
Atonic-Astatic Syndrome of Foerster
autosomal recessive intellectual developmental disorder 73
Bhaskar Jagannathan Syndrome
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
Carnitine Acetyltransferase Deficiency
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
coenzyme Q10 deficiency disease +
combined oxidative phosphorylation deficiency 3
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Deafness Hyperuricemia Neurologic Ataxia
Der Kaloustian Mcintosh Silver Syndrome
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
developmental delay, hypotonia, and impaired language
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
familial isolated deficiency of vitamin E
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
fragile X-associated tremor/ataxia 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
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
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
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-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
osteosclerotic metaphyseal dysplasia
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
Primary Orthostatic Tremor
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
progressive myoclonus epilepsy 1B
Reardon Wilson Cavanagh Syndrome
Retinopathy-sensory neuropathy 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
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Synonyms |
Exact Synonyms: |
ATITHS
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POU4F1-RELATED CONDITION
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childhood-onset ataxia, intention tremor, and hypotonia syndrome
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Primary IDs: |
MIM:619352
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Definition Sources: |
MIM:619352 |
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