TaoMedAI/RareMedData huggingface dataset:
Gene: SALL4
Phenotype: Nystagmus (HP:0000639)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Impaired ocular abduction (HP:0000634)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Impaired ocular abduction (HP:0000634)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Amblyopia (HP:0000646)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Blepharospasm (HP:0000643)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Impaired convergence (HP:0000619)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Iris coloboma (HP:0000612)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Iris coloboma (HP:0000612)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Aplasia of metacarpal bones (HP:0010048)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Patchy hypopigmentation of hair (HP:0011365)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Upper limb muscle hypoplasia (HP:0009016)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Palpebral fissure narrowing on adduction (HP:0000661)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Abnormal vertebral segmentation and fusion (HP:0005640)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Short hallux (HP:0010109)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Short humerus (HP:0005792)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Short humerus (HP:0005792)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Short femur (HP:0003097)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Short clavicles (HP:0000894)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Gustatory lacrimation (HP:0100274)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Epicanthus (HP:0000286)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Abnormal morphology of the radius (HP:0002818)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Paroxysmal tonic upgaze (HP:0033980)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Central heterochromia (HP:0007818)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Camptodactyly (HP:0012385)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Micrognathia (HP:0000347)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Radial club hand (HP:0004059)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Hypoplastic iris stroma (HP:0007990)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Abnormal nasopharynx morphology (HP:0001739)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Strabismus (HP:0000486)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Strabismus (HP:0000486)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Strabismus (HP:0000486)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Strabismus (HP:0000486)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Strabismus (HP:0000486)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Microcornea (HP:0000482)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Microcornea (HP:0000482)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Hypoplasia of deltoid muscle (HP:0030241)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Short neck (HP:0000470)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Webbed neck (HP:0000465)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Pes planus (HP:0001763)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Choanal atresia (HP:0000453)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Cataract (HP:0000518)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Cataract (HP:0000518)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Aniridia (HP:0000526)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Sandal gap (HP:0001852)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Sandal gap (HP:0001852)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Ptosis (HP:0000508)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Ptosis (HP:0000508)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Coloboma (HP:0000589)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Talipes (HP:0001883)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Impaired ocular adduction (HP:0000542)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Impaired ocular adduction (HP:0000542)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: IVIC SYNDROME (OMIM:147750)