TaoMedAI/RareMedData huggingface dataset:
Gene: ALG12
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine (HP:0410305)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Small scrotum (HP:0000046)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Micropenis (HP:0000054)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Micropenis (HP:0000054)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Hypospadias (HP:0000047)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Hypospadias (HP:0000047)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Pachygyria (HP:0001302)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Scoliosis (HP:0002650)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Rhizomelia (HP:0008905)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Poor suck (HP:0002033)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Reduced protein S activity (HP:0004855)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Recurrent pharyngitis (HP:0100776)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Esodeviation (HP:0020045)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Reduced protein C activity (HP:0005543)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Reduced factor XI activity (HP:0001929)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Posterior plagiocephaly (HP:0011327)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Short long bone (HP:0003026)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Abnormal peripheral nervous system morphology (HP:0000759)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Widened cerebral subarachnoid space (HP:0012766)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Abnormal adipose tissue morphology (HP:0009124)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Short ribs (HP:0000773)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Short tibia (HP:0005736)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Short humerus (HP:0005792)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)