TaoMedAI/RareMedData huggingface dataset:
Gene: DPM1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Full cheeks (HP:0000293)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Micrognathia (HP:0000347)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Early onset absence seizures (HP:0011152)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Strabismus (HP:0000486)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Retinopathy (HP:0000488)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Retinopathy (HP:0000488)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Flat occiput (HP:0005469)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Gene: DPM1
Phenotype: Flat occiput (HP:0005469)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Long hallux (HP:0001847)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Sandal gap (HP:0001852)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPM1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Esotropia (HP:0000565)
Associated disease: DPM1-CDG; Congenital disorder of glycosylation type 1e; CDG1E; CDG syndrome type Ie; Congenital disorder of glycosylation type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type Ie (ORPHA:79322)
Gene: DPM1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPM1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BANF1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Osteolysis (HP:0002797)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Dyspnea (HP:0002094)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Wide cranial sutures (HP:0010537)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Osteolytic defects of the distal phalanges of the hand (HP:0009839)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Rib osteolysis (HP:0034047)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Mandibular osteolysis (HP:0034046)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Spotty hyperpigmentation (HP:0005585)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Dental crowding (HP:0000678)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Short stature (HP:0004322)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Progressive clavicular acroosteolysis (HP:0000905)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Thin ribs (HP:0000883)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Hypertension (HP:0000822)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Dry skin (HP:0000958)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Alopecia (HP:0001596)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Growth delay (HP:0001510)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Micrognathia (HP:0000347)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: BANF1
Phenotype: Proptosis (HP:0000520)
Associated disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Gene: DPM2
Phenotype: Primitive reflex (HP:0002476)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Poor head control (HP:0002421)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Decreased O-mannosyl glycans on alpha-dystroglycan (HP:0410362)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Absent speech (HP:0001344)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Deep philtrum (HP:0002002)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Gene: DPM2
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Gene: DPM2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: CDG syndrome type Iu; CDG-Iu; Congenital disorder of glycosylation type 1u; Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG1U; Carbohydrate deficient glycoprotein syndrome type Iu; CMD with intellectual disability and severe epilepsy; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)