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Ontology Browser

Term:
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (DOID:9009067)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3p deletion syndrome 
Al-Raqad Syndrome  
Alazami-Yuan Syndrome  
apraxia +   
Arima Syndrome 
Asparagine Synthetase Deficiency  
Au-Kline Syndrome  
Bainbridge-Ropers Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Behrens Baumann Dust Syndrome 
Bowen-Conradi syndrome  
C syndrome  
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
Cerebellar Degeneration-Related Autoantigen 3 
cerebellar hypoplasia +   
Cerebellar Neoplasms +   
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebelloparenchymal Disorder VI 
Childhood-Onset Chorea with Psychomotor Retardation  
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Dandy-Walker syndrome +   
De Hauwere Leroy Adriaenssens syndrome 
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Diaminopentanuria 
Dykes Markes Harper Syndrome 
Dystonia with Cerebellar Atrophy 
early infantile epileptic encephalopathy 38  
early infantile epileptic encephalopathy 55  
Early Infantile Epileptic Encephalopathy, 77  
Early Infantile Epileptic Encephalopathy, 80  
Edinburgh Malformation Syndrome 
fumarase deficiency  
Genitopatellar Syndrome  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. (OMIM)
Glycosylphosphatidylinositol Biosynthesis Defect 16  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Harel-Yoon Syndrome  
HEART AND BRAIN MALFORMATION SYNDROME  
infantile cerebellar-retinal degeneration  
Infantile Hypotonia with Psychomotor Retardation +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
Joubert syndrome +   
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
L-2-hydroxyglutaric aciduria  
Loucks-Innes Syndrome  
MacDermot Winter Syndrome 
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Megarbane Syndrome 
Mental Retardation, Autosomal Recessive 53  
Miller Fisher syndrome 
mitochondrial pyruvate carrier deficiency  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
Ogden syndrome  
Okur-Chung Neurodevelopmental Syndrome  
Paraneoplastic Cerebellar Degeneration 
Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 
PHGDH deficiency  
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
pontocerebellar hypoplasia +   
Porencephaly Cerebellar Hypoplasia Malformations 
PORETTI-BOLTSHAUSER SYNDROME  
primary cerebellar degeneration +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
PSPH deficiency  
Psychomotor Agitation +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
sepiapterin reductase deficiency  
Stevenson-Carey Syndrome 
Subacute Cerebellar Degeneration 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Verheij Syndrome  
ZTTK Syndrome  

Synonyms
Exact Synonyms: DEVELOPMENTAL DELAY, EPILEPSY, CEREBELLAR ATROPHY, AND OSTEOPENIA ;   GPIBD15
Primary IDs: OMIM:617810

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