TaoMedAI/RareMedData huggingface dataset:
Gene: GJC2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: LYMPHATIC MALFORMATION 3 (OMIM:613480)
Gene: GJC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Abnormal lymphatic vessel morphology (HP:0100766)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Facial palsy (HP:0010628)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHATIC MALFORMATION 3 (OMIM:613480)
Gene: GJC2
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Cellulitis (HP:0100658)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHATIC MALFORMATION 3 (OMIM:613480)
Gene: GJC2
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Pedal edema (HP:0010741)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LYMPHATIC MALFORMATION 3 (OMIM:613480)
Gene: GJC2
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Childhood onset (HP:0011463)
Associated disease: LYMPHATIC MALFORMATION 3 (OMIM:613480)
Gene: GJC2
Phenotype: Young adult onset (HP:0011462)
Associated disease: LYMPHATIC MALFORMATION 3 (OMIM:613480)
Gene: GJC2
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Abnormal motor evoked potentials (HP:0012896)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Facial edema (HP:0000282)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: GJC2
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: LYMPHATIC MALFORMATION 3 (OMIM:613480)
Gene: GJC2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Venous insufficiency (HP:0005293)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Strabismus (HP:0000486)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Ankle swelling (HP:0001785)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Gene: GJC2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Gene: GJC2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Ptosis (HP:0000508)
Associated disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Gene: GJC2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: GJC2
Phenotype: Myopia (HP:0000545)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Gene: SALL4
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Syndactyly (HP:0001159)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Duane anomaly (HP:0009921)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Duane anomaly (HP:0009921)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Slit-like opening of the exterior auditory meatus (HP:0008588)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Seizure (HP:0001250)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Small thenar eminence (HP:0001245)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Small thenar eminence (HP:0001245)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Limited interphalangeal movement (HP:0006064)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Joint stiffness (HP:0001387)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Scoliosis (HP:0002650)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Scoliosis (HP:0002650)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Scoliosis (HP:0002650)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Absent radius (HP:0003974)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Absent radius (HP:0003974)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Pectoralis hypoplasia (HP:0008998)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Pectoralis major hypoplasia (HP:0008953)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Limited wrist movement (HP:0006248)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Renal agenesis (HP:0000104)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Anal stenosis (HP:0002025)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Anal atresia (HP:0002023)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Anal atresia (HP:0002023)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Anal atresia (HP:0002023)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Radial deviation of the hand (HP:0009486)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Renal malrotation (HP:0004712)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Renal malrotation (HP:0004712)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Congenital onset (HP:0003577)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Congenital onset (HP:0003577)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Short distal phalanx of the thumb (HP:0009650)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Facial palsy (HP:0010628)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Severe short stature (HP:0003510)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: SALL4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SALL4
Phenotype: Absent thumb (HP:0009777)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Absent thumb (HP:0009777)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Short thumb (HP:0009778)
Associated disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Gene: SALL4
Phenotype: Short thumb (HP:0009778)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Short thumb (HP:0009778)
Associated disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Gene: SALL4
Phenotype: Short thumb (HP:0009778)
Associated disease: IVIC SYNDROME (OMIM:147750)
Gene: SALL4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SALL4
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: Acro-renal-ocular syndrome (ORPHA:959)
Gene: SALL4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)