TaoMedAI/RareMedData huggingface dataset:
Gene: SOS2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOS2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Seizure (HP:0001250)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Micropenis (HP:0000054)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Hypospadias (HP:0000047)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Constipation (HP:0002019)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Vertebral hypoplasia (HP:0008417)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: SOX2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Sclerocornea (HP:0000647)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: SOX2
Phenotype: Polydipsia (HP:0001959)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Short stature (HP:0004322)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Short stature (HP:0004322)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Autism (HP:0000717)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Missing ribs (HP:0000921)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Rib fusion (HP:0000902)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Dry skin (HP:0000958)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: SOX2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Growth delay (HP:0001510)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Obesity (HP:0001513)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Fatigue (HP:0012378)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Strabismus (HP:0000486)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: SOX2
Phenotype: Strabismus (HP:0000486)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Anosmia (HP:0000458)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Cataract (HP:0000518)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: SOX2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: SOX2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX2
Phenotype: Coloboma (HP:0000589)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Gene: SOX2
Phenotype: Visual loss (HP:0000572)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: SOX2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Syndromic microphthalmia type 3; Anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3 (ORPHA:77298)
Gene: SOX2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)