TaoMedAI/RareMedData huggingface dataset:
Gene: IFT43
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: High hypermetropia (HP:0008499)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Nystagmus (HP:0000639)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Taurodontia (HP:0000679)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Microdontia (HP:0000691)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 81 (OMIM:617871)
Gene: IFT43
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Hypodontia (HP:0000668)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Short stature (HP:0004322)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 81 (OMIM:617871)
Gene: IFT43
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Narrow chest (HP:0000774)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Narrow chest (HP:0000774)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Short ribs (HP:0000773)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Missing ribs (HP:0000921)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Dry skin (HP:0000958)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Sparse hair (HP:0008070)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Sparse hair (HP:0008070)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: RETINITIS PIGMENTOSA 81 (OMIM:617871)
Gene: IFT43
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Epicanthus (HP:0000286)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Epicanthus (HP:0000286)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Prominent occiput (HP:0000269)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 81 (OMIM:617871)
Gene: IFT43
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 81 (OMIM:617871)
Gene: IFT43
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Micrognathia (HP:0000347)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Micromelia (HP:0002983)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Radial bowing (HP:0002986)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Short nail (HP:0001799)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Gene: IFT43
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Sandal gap (HP:0001852)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Broad nail (HP:0001821)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Telecanthus (HP:0000506)
Associated disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Gene: IFT43
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT43
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT43
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IFT43
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT43
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 81 (OMIM:617871)
Gene: IFT43
Phenotype: Myopia (HP:0000545)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT43
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: STX1B
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Hypotonia (HP:0001252)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Ataxia (HP:0001251)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Gene: STX1B
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Tremor (HP:0001337)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Gene: STX1B
Phenotype: Talipes valgus (HP:0004684)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Gene: STX1B
Phenotype: Bradykinesia (HP:0002067)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Gene: STX1B
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Status epilepticus (HP:0002133)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Infantile onset (HP:0003593)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Gene: STX1B
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Generalized cerebral atrophy/hypoplasia (HP:0007058)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 (OMIM:616172)
Gene: STX1B
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: STX1B
Phenotype: Developmental regression (HP:0002376)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)