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Ontology Browser

Term:
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities (DOID:9002301)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
3-M syndrome +   
aceruloplasminemia  
adult respiratory distress syndrome  
agenesis of the corpus callosum with peripheral neuropathy  
Airway Obstruction +   
Al-Raqad Syndrome  
Alazami-Yuan Syndrome  
ALFADHEL SYNDROME  
Alkuraya-Kucinskas syndrome  
Allan-Herndon-Dudley syndrome  
ALZAHRANI-KUWAHARA SYNDROME  
anorexia nervosa +   
asphyxiating thoracic dystrophy 4  
asphyxiating thoracic dystrophy 5  
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET  
Atonic-Astatic Syndrome of Foerster 
Attention Deficit and Disruptive Behavior Disorders +   
Au-Kline Syndrome  
autosomal recessive intellectual developmental disorder 73  
Baker-Gordon Syndrome  
Baralle-Macken Syndrome  
Barre-Lieou syndrome 
Binge-Eating Disorder  
Birk-Barel syndrome  
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME  
Bryant-Li-Bhoj Neurodevelopmental Syndrome +   
bulimia nervosa +   
BURATTI-HAREL SYNDROME  
Cardiofacioneurodevelopmental Syndrome  
Carnitine Acetyltransferase Deficiency  
CEBALID Syndrome  
Child Behavior Disorders +   
Childhood Schizophrenia  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
childhood-onset neurodegeneration with brain atrophy  
Childhood-Onset Neurodegeneration with Cerebellar Atrophy  
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities  
A disease characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Caused by heterozygous mutation in the CLCN6 gene on chromosome 1p36.
CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
CHOPRA-AMIEL-GORDON SYNDROME  
Chromosome Xq27.3-q28 Duplication Syndrome 
Circumvallate Placenta Syndrome 
Cohen syndrome  
combined oxidative phosphorylation deficiency 3  
communication disorder +   
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE  
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
congenital myopathy 17  
congenital myopathy 21  
congenital myopathy 9A  
De Hauwere syndrome  
DEGCAGS SYNDROME  
Delpire-McNeill Syndrome  
demyelinating disease +   
DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME  
Der Kaloustian Mcintosh Silver Syndrome 
DeSanto-Shinawi syndrome  
developmental coordination disorder  
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES  
developmental delay, hypotonia, and impaired language  
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES  
Developmental Disabilities +   
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +   
DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME  
Emanuel Syndrome 
ENDOVE SYNDROME, LIMB-BRAIN TYPE  
Ethanolaminosis 
eye degenerative disease +   
Feigenbaum Bergeron Richardson Syndrome 
Female Athlete Triad Syndrome 
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME  
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
FG syndrome +   
FINCA Syndrome  
FLIEDNER-ZWEIER SYNDROME  
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome  
fumarase deficiency  
GABRIELE-DE VRIES SYNDROME  
German Syndrome 
glycogen storage disease IX +   
Glycosylphosphatidylinositol Biosynthesis Defect 25  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
Halperin-Birk syndrome  
hantavirus pulmonary syndrome 
Hao-Fountain Syndrome  
Harel-Yoon syndrome  
Hengel-Maroofian-Schols syndrome  
hereditary ataxia +   
Huntington's disease-like 2  
hypomyelinating leukodystrophy 8  
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  
Hypoventilation +   
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
IMAGAWA-MATSUMOTO SYNDROME  
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Infantile Apparent Life-Threatening Event 
Infantile Hypotonia with Psychomotor Retardation +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies  
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  
Joubert syndrome 10  
Joubert syndrome 3  
Joubert syndrome 5  
Kahn-Kahn-Katsanis Syndrome  
Kaya-Barakat-Masson Syndrome  
Ketoadipicaciduria 
Kilquist Syndrome  
Laryngeal Granuloma 
learning disability +   
LESSEL-KREIENKAMP SYNDROME  
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
Liang-Wang Syndrome  
Lopes-Maciel-Rodan Syndrome  
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN  
MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
motor neuron disease +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED  
multiple system atrophy +   
mutism  
myoclonic cerebellar dyssynergia +  
myofibrillar myopathy 9  
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome  
neonatal respiratory failure +   
Nervous System Heredodegenerative Disorders +   
Nervous System Paraneoplastic Syndromes +   
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT  
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy  
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset  
neurodegeneration with brain iron accumulation +   
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY  
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA  
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE  
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 ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES  
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
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 WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES  
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 DYSTONIA AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY  
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 Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly  
NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED  
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities  
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 GROSS MOTOR AND SPEECH DELAY  
neurodevelopmental disorder with hypotonia and speech delay  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
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, 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 IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements  
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS  
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY  
neurodevelopmental disorder with involuntary movements  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN 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, Cerebral Atrophy, and Visual Impairment  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
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 Microcephaly, Impaired Language, and Gait Abnormalities  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES  
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 MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY  
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM  
NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION  
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 POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures  
Neurodevelopmental Disorder with Seizures and Brain Abnormalities  
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 Seizures, Microcephaly, and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY  
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties  
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES  
Neurodevelopmental Disorder with Speech Impairment and with or without Seizures  
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  
neuronal intranuclear inclusion disease  
NEUROOCULAR SYNDROME  
newborn respiratory distress syndrome +   
O'Donnell-Luria-Rodan Syndrome  
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME  
Okur-Chung Neurodevelopmental Syndrome  
olivopontocerebellar atrophy +   
osteosclerotic metaphyseal dysplasia  
Parenti-Mignot Neurodevelopmental Syndrome  
PEHO syndrome  
pervasive developmental disorder +   
pica disease 
Pilarowski-Bjornsson Syndrome  
plexopathy 
Pointer Syndrome 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
pontocerebellar hypoplasia +   
Popov-Chang Syndrome 
Positive-Pressure Respiration, Intrinsic 
postpoliomyelitis syndrome 
primary cerebellar degeneration +   
prion disease +   
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
pulmonary edema +   
Qazi Markouizos syndrome 
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 
RADIO-TARTAGLIA SYNDROME  
Reactive Attachment Disorder  
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Respiratory Acidosis 
Respiratory Paralysis 
Respiratory Underresponsiveness to Hypoxia and Hypercapnia  
rumination disorder 
scalp-ear-nipple syndrome  
secondary Parkinson disease +   
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
separation anxiety disorder  
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
Shukla-Vernon syndrome  
Skraban-Deardorff Syndrome  
Snijders Blok-Fisher Syndrome  
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
Spastic Pseudosclerosis 
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE  
Stankiewicz-Isidor Syndrome  
stereotypic movement disorder +   
Stolerman neurodevelopmental syndrome  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Subacute Combined Degeneration  
synucleinopathy +   
TAN-ALMURSHEDI SYNDROME  
tauopathy +   
Tauopathy and Respiratory Failure 
TDP-43 Proteinopathies +   
Tessadori-van Haaften Neurodevelopmental Syndrome +   
Tessadori-van Haaften Neurodevelopmental Syndrome 1  
Thompson Baraitser Syndrome 
tic disorder +   
Trichohepatoneurodevelopmental Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE  
Ventriculomegaly +   
WHITE-KERNOHAN SYNDROME  
Yuan-Harel-Lupski Syndrome 

Synonyms
Exact Synonyms: CLCN6-RELATED CONDITION ;   CONRIBA
Primary IDs: OMIM:619173
Definition Sources: OMIM:619173

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