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Ontology Browser

Term:
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities (DOID:9004548)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Alkuraya-Kucinskas syndrome  
ALZAHRANI-KUWAHARA SYNDROME  
Attention Deficit and Disruptive Behavior Disorders +   
Baker-Gordon Syndrome  
Baralle-Macken Syndrome  
Barre-Lieou syndrome 
brain small vessel disease 1  
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME  
Bryant-Li-Bhoj Neurodevelopmental Syndrome +   
BURATTI-HAREL SYNDROME  
Cardiofacioneurodevelopmental Syndrome  
CEBALID Syndrome  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Child Behavior Disorders +   
Childhood Schizophrenia  
Childhood-Onset Spasticity with Hyperglycinemia  
CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
CHOPRA-AMIEL-GORDON SYNDROME  
combined oxidative phosphorylation deficiency 12  
communication disorder +   
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE  
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
DEGCAGS SYNDROME  
Delpire-McNeill Syndrome  
Demyelinating Autoimmune Diseases, CNS +   
DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME  
developmental coordination disorder  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES  
Developmental Disabilities +   
Diaminopentanuria 
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +   
dystonia 9  
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +   
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
ENDOVE SYNDROME, LIMB-BRAIN TYPE  
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Fitzsimmons Walson Mellor Syndrome 
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome  
GABRIELE-DE VRIES SYNDROME  
Halperin-Birk Syndrome  
Harel-Yoon Syndrome  
HENGEL-MAROOFIAN-SCHOLS SYNDROME  
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Diffuse Leukoencephalopathy with Spheroids 2  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukoencephalopathy 
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
IMAGAWA-MATSUMOTO SYNDROME  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
inclusion body myopathy and brain white matter abnormalities  
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
intellectual disability +   
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME  
JABERI-ELAHI SYNDROME  
Kahn-Kahn-Katsanis Syndrome  
Kaya-Barakat-Masson Syndrome  
Koone Rizzo Elias Syndrome 
Labrune Syndrome  
learning disability +   
LESSEL-KREIENKAMP SYNDROME  
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
leukoencephalopathy with vanishing white matter  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
Liang-Wang Syndrome  
Lopes-Maciel-Rodan Syndrome  
LUO-SCHOCH-YAMAMOTO SYNDROME  
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN  
MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME  
Methylenetetrahydrofolate Reductase Deficiency  
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED  
mutism  
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES  
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities  
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter  
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction  
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities  
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM  
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA  
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 VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
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 Impaired Intellectual Development, Hypotonia, and Ataxia   
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements  
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS  
neurodevelopmental disorder with involuntary movements  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS  
NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES  
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features  
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES  
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY  
Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
An autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. Brain imaging shows variable white matter abnormalities, including thin corpus callosum and poor myelination
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH  
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS  
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS  
NEUROOCULAR SYNDROME  
O'Donnell-Luria-Rodan Syndrome  
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME  
Oculopharyngeal Myopathy with Leukoencephalopathy 1  
Okur-Chung Neurodevelopmental Syndrome  
Opticocochleodentate Degeneration 
pervasive developmental disorder +   
Pilarowski-Bjornsson Syndrome  
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant  
Popov-Chang Syndrome 
Posterior Leukoencephalopathy Syndrome  
Powell Venencie Gordon syndrome 
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy  
Reactive Attachment Disorder  
Ribose 5-Phosphate Isomerase Deficiency  
RNASET2-deficient cystic leukoencephalopathy  
Seemanova Lesny Syndrome 
separation anxiety disorder  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Shukla-Vernon syndrome  
Skraban-Deardorff Syndrome  
spastic ataxia +   
spastic ataxia 3  
Spastic Cerebral Palsy, Quadriplegic, 2  
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
spastic paraplegia with deafness 
Stankiewicz-Isidor Syndrome  
stereotypic movement disorder +   
syndromic X-linked intellectual disability Turner type  
Telencephalic Leukoencephalopathy 
Tessadori-van Haaften Neurodevelopmental Syndrome +   
tic disorder +   
Trichohepatoneurodevelopmental Syndrome  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE  
vascular dementia +   
Ventriculomegaly +   
Webb-Dattani Syndrome  
WHITE-KERNOHAN SYNDROME  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   

Synonyms
Exact Synonyms: CPSQ1 ;   NEDSWMA ;   quadriplegic spastic cerebral palsy 1
Primary IDs: MESH:C567853
Alternate IDs: DOID:9007507 ;   OMIM:619026
Definition Sources: OMIM:619026

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