TaoMedAI/RareMedData huggingface dataset:
Gene: DPAGT1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Apnea (HP:0002104)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Gene: DPAGT1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Gene: DPAGT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Reduced protein S activity (HP:0004855)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Scapular winging (HP:0003691)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Frequent falls (HP:0002359)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Gene: DPAGT1
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Thickened skin (HP:0001072)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Skin dimple (HP:0010781)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Skin dimple (HP:0010781)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Akinesia (HP:0002304)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Anemia (HP:0001903)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Difficulty running (HP:0009046)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Generalized weakness of limb muscles (HP:0009028)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Autism (HP:0000717)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Gene: DPAGT1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Myopathy (HP:0003198)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Muscle fiber tubular inclusions (HP:0100301)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Gene: DPAGT1
Phenotype: Muscle fiber tubular inclusions (HP:0100301)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Inverted nipples (HP:0003186)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Jaundice (HP:0000952)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Ocular melanocytosis (HP:0025534)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: High palate (HP:0000218)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Increased jitter at single fiber EMG (HP:0030205)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Gene: DPAGT1
Phenotype: Increased jitter at single fiber EMG (HP:0030205)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Favorable response of weakness to acetylcholine esterase inhibitors (HP:0030202)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Abnormal peripheral nervous system synaptic transmission (HP:0030191)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Emotional dearth (HP:0030213)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Pes planus (HP:0001763)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Cataract (HP:0000518)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Gene: DPAGT1
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Exotropia (HP:0000577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Exotropia (HP:0000577)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPAGT1
Phenotype: Diffuse optic disc pallor (HP:0012512)
Associated disease: Congenital disorder of glycosylation type Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; CDG syndrome type Ij; Congenital disorder of glycosylation type 1j; DPAGT1-CDG; CDG-Ij; CDG1J (ORPHA:86309)
Gene: DPH1
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Seizure (HP:0001250)
Associated disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Gene: DPH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Gene: DPH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)