TaoMedAI/RareMedData huggingface dataset:
Gene: ALG3
Phenotype: Inverted nipples (HP:0003186)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Osteopenia (HP:0000938)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Epicanthus (HP:0000286)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Abnormal limb bone morphology (HP:0002813)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: High palate (HP:0000218)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Coarctation of the descending aortic arch (HP:0012305)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Macrotia (HP:0000400)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Small nail (HP:0001792)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Cataract (HP:0000518)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Food intolerance (HP:0012537)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Congenital disorder of glycosylation type Id; Congenital disorder of glycosylation type 1d; CDG1D; CDG syndrome type Id; Carbohydrate deficient glycoprotein syndrome type Id; ALG3-CDG; Mannosyltransferase 6 deficiency; CDG-Id (ORPHA:79321)
Gene: ALG3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG3
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id (OMIM:601110)
Gene: ALG3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CALCRL
Phenotype: Generalized edema (HP:0007430)
Associated disease: LYMPHATIC MALFORMATION 8 (OMIM:618773)
Gene: CALCRL
Phenotype: Stillbirth (HP:0003826)
Associated disease: LYMPHATIC MALFORMATION 8 (OMIM:618773)
Gene: CALCRL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LYMPHATIC MALFORMATION 8 (OMIM:618773)
Gene: CALCRL
Phenotype: Pleural effusion (HP:0002202)
Associated disease: LYMPHATIC MALFORMATION 8 (OMIM:618773)
Gene: CALCRL
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: LYMPHATIC MALFORMATION 8 (OMIM:618773)
Gene: CALCRL
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: LYMPHATIC MALFORMATION 8 (OMIM:618773)
Gene: CALCRL
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHATIC MALFORMATION 8 (OMIM:618773)
Gene: MPZL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 111 (OMIM:618145)
Gene: MPZL2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 111 (OMIM:618145)
Gene: MPZL2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 111 (OMIM:618145)
Gene: MPZL2
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 111 (OMIM:618145)
Gene: TOPORS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Syndactyly (HP:0001159)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Visual field defect (HP:0001123)
Associated disease: RETINITIS PIGMENTOSA 31 (OMIM:609923)
Gene: TOPORS
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Seizure (HP:0001250)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Hypotonia (HP:0001252)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Ataxia (HP:0001251)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Central Y-shaped metacarpal (HP:0006145)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Tremor (HP:0001337)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 31 (OMIM:609923)
Gene: TOPORS
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Tongue nodules (HP:0000199)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Cleft palate (HP:0000175)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOPORS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TOPORS
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TOPORS
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)