Ontology Browser

Term:
Familial Infantile Convulsions and Paroxysmal Choreoathetosis (DOID:9007283)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2)
Parent Terms Term With Siblings Child Terms
Dyskinesias +     
visual epilepsy +     
Adams Nance Syndrome 
Alcohol Withdrawal Seizures  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Arthrogryposis, Mental Retardation, and Seizures  
Ataxia +   
Athetosis +   
autosomal dominant non-syndromic intellectual disability 6  
Autosomal Recessive Infantile Epilepsy  
Baraitser Rodeck Garner syndrome 
Benign Familial Infantile Seizures, 2  
Benign Familial Infantile Seizures, 3  
Benign Familial Infantile Seizures, 4 
Benign Familial Infantile Seizures, 5  
Benign Familial Neonatal Convulsions 1, Atypical Severe 
Benign Familial Neonatal Seizures, 1  
Benign Familial Neonatal Seizures, 2  
Benign Neonatal Epilepsy, 1  
Benign Neonatal Epilepsy, 1, Atypical Severe 
Benign Neonatal Epilepsy, Autosomal Recessive 
Bobble-Head Doll Syndrome 
Catalepsy  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood onset epileptic encephalopathy  
choreatic disease +   
chromosome 15q13.3 microdeletion syndrome  
cold-induced sweating syndrome +   
Copper Deficiency, Familial Benign 
Craniosynostosis 2  
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
developmental delay and seizures with or without movement abnormalities  
Drug-Induced Dyskinesia +   
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
dystonia +   
EAST syndrome  
Epilepsy, Benign Neonatal, 1, and/or Myokymia 
Experimental Seizures  
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Dyskinesia with Facial Myokymia  
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
Hyper-Beta-Alaninemia 
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperkinesis +   
Hyperleucine-Isoleucinemia 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
Hypokinesia +   
Hypomagnesemia, Seizures, and Mental Retardation +   
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypotonia, Seizures, and Precocious Puberty 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
lingual-facial-buccal dyskinesia 
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Methionine Malabsorption Syndrome 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
microcephaly, seizures, and developmental delay  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Mirror Movements 1  
Mirror Movements 2  
Mirror Movements 3  
Mirror Movements 4  
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myoclonus +   
Myokymia with Neonatal Epilepsy 
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Occipital Cortical Malformations  
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Paroxysmal Exertion-Induced Dyskinesia and Hemolytic Anemia 
Partington syndrome  
Perniola Krajewska Carnevale Syndrome 
PHGDH deficiency  
Postnatal Progressive Microcephaly with Seizures and Brain Atrophy  
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
Psychomotor Agitation +   
Qazi Markouizos syndrome 
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
Smith-Kingsmore Syndrome  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability type 10  
Synkinesis +  
Tics  
Tranebjaerg Svejgaard syndrome 
Tremor +   
White-Sutton syndrome  
X-Linked Mental Retardation Gustavson Type 

Synonyms
Exact Synonyms: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS ;   ICCA ;   ICCA SYNDROME ;   PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS ;   PKD/IC
Primary IDs: MESH:C535522
Alternate IDs: OMIM:602066 ;   RDO:0000681

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