TaoMedAI/RareMedData huggingface dataset:
Gene: ALG9
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Diarrhea (HP:0002014)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Vomiting (HP:0002013)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Asthma (HP:0002099)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Asthma (HP:0002099)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Congenital onset (HP:0003577)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Low insertion of columella (HP:0010763)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Reduced factor XI activity (HP:0001929)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Short long bone (HP:0003026)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Short long bone (HP:0003026)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Irritability (HP:0000737)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Villous atrophy (HP:0011473)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Villous atrophy (HP:0011473)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Hematuria (HP:0000790)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Short nose (HP:0003196)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Short nose (HP:0003196)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Inverted nipples (HP:0003186)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Hypertension (HP:0000822)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Epicanthus (HP:0000286)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Retrognathia (HP:0000278)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Kyphosis (HP:0002808)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Microcephaly (HP:0000252)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Brachycephaly (HP:0000248)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Ascites (HP:0001541)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Omphalocele (HP:0001539)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Omphalocele (HP:0001539)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Fetal skin edema (HP:0025672)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Gene: ALG9
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG9
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG9
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Mannosyltransferase 7-9 deficiency; Carbohydrate deficient glycoprotein syndrome type IL; CDG syndrome type IL; CDG-IL; ALG9-CDG; Congenital disorder of glycosylation type 1L; CDG1L (ORPHA:79328)
Gene: ALG9
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Gene: ALG9
Phenotype: Abnormal systemic arterial morphology (HP:0011004)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG9
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)