TaoMedAI/RareMedData huggingface dataset:
Gene: DNMT3B
Phenotype: Low-set ears (HP:0000369)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Micrognathia (HP:0000347)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Micrognathia (HP:0000347)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC (OMIM:619478)
Gene: DNMT3B
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Keratitis (HP:0000491)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Anteverted nares (HP:0000463)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Visual loss (HP:0000572)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Chronic pain (HP:0012532)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Retinal detachment (HP:0000541)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DOCK2
Phenotype: Eosinophilic granuloma (HP:0032253)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Rectal fistula (HP:0100590)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Focal active colitis (HP:0033164)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Severe varicella zoster infection (HP:0032170)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Recurrent fever (HP:0001954)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Reduced antigen-specific T cell proliferation (HP:0031402)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Gene: DOCK3
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Long fingers (HP:0100807)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Mild short stature (HP:0003502)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Pointed chin (HP:0000307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DOCK3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA (OMIM:618292)
Gene: DPAGT1
Phenotype: Arachnodactyly (HP:0001166)
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: Distal muscle weakness (HP:0002460)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Intellectual disability, severe (HP:0010864)
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: Poor head control (HP:0002421)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Stroke-like episode (HP:0002401)
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: Proximal muscle weakness (HP:0003701)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Gene: DPAGT1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Hypertonia (HP:0001276)
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: Hypertonia (HP:0001276)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Gene: DPAGT1
Phenotype: Motor delay (HP:0001270)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Areflexia (HP:0001284)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Gene: DPAGT1
Phenotype: Ataxia (HP:0001251)
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: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Hyporeflexia (HP:0001265)
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 developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Brain imaging abnormality (HP:0410263)
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: Inability to walk (HP:0002540)
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: Hypsarrhythmia (HP:0002521)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Hypsarrhythmia (HP:0002521)
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: Waddling gait (HP:0002515)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Anasarca (HP:0012050)
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: Flexion contracture (HP:0001371)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Flexion contracture (HP:0001371)
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: Flexion contracture (HP:0001371)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Absent speech (HP:0001344)
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: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Gene: DPAGT1
Phenotype: Tremor (HP:0001337)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Tremor (HP:0001337)
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: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
Gene: DPAGT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Cerebellar hypoplasia (HP:0001321)
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: Abnormal cerebellum morphology (HP:0001317)
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: Stereotypical body rocking (HP:0012172)
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: Head-banging (HP:0012168)
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: Floppy infant (HP:0008947)
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: Axial hypotonia (HP:0008936)
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: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Pulmonary hypoplasia (HP:0002089)
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: Respiratory insufficiency (HP:0002093)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij (OMIM:608093)
Gene: DPAGT1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Gowers sign (HP:0003391)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
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: Easy fatigability (HP:0003388)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: DPAGT1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)