TaoMedAI/RareMedData huggingface dataset:
Gene: ALMS1
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Cataract (HP:0000518)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Visual impairment (HP:0000505)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Short toe (HP:0001831)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Increased circulating androgen concentration (HP:0030348)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Delayed menarche (HP:0012569)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Visual loss (HP:0000572)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Visual loss (HP:0000572)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALMS1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALMS1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: ALSTROM SYNDROME (OMIM:203800)
Gene: ALMS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Alström syndrome (ORPHA:64)
Gene: ALMS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALMS1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MOGS
Phenotype: Hand clenching (HP:0001188)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Reduced tissue mannosyl-oligosaccharide glucosidase activity (HP:6000576)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Seizure (HP:0001250)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Generalized edema (HP:0007430)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Generalized edema (HP:0007430)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Dystonia (HP:0001332)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Floppy infant (HP:0008947)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Hypoventilation (HP:0002791)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Hypoventilation (HP:0002791)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Inappropriate antidiuretic hormone secretion (HP:0031218)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Apnea (HP:0002104)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Fair hair (HP:0002286)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Hirsutism (HP:0001007)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Bone fracture (HP:0020110)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Absent brainstem auditory responses (HP:0004463)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Hypoplastic female external genitalia (HP:0012815)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Edema (HP:0000969)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Retrognathia (HP:0000278)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Retrognathia (HP:0000278)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Alopecia (HP:0001596)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Prominent occiput (HP:0000269)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: High palate (HP:0000218)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Wide nose (HP:0000445)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Wide nose (HP:0000445)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: MOGS
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb (OMIM:606056)
Gene: MOGS
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Carbohydrate deficient glycoprotein syndrome type IIb; Congenital disorder of glycosylation type IIb; CDG syndrome type IIb; CDG-IIb; CDG2B; Glucosidase 1 deficiency; MOGS-CDG; Congenital disorder of glycosylation type 2b (ORPHA:79330)
Gene: TUBA1A
Phenotype: Dysgenesis of the basal ganglia (HP:0025102)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Anisocoria (HP:0009916)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Startle-induced seizure (HP:0020214)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Motor delay (HP:0001270)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Seizure (HP:0001250)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Ataxia (HP:0001251)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Ataxia (HP:0001251)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)