TaoMedAI/RareMedData huggingface dataset:
Gene: TBX6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Hypospadias (HP:0000047)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Syringomyelia (HP:0003396)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Urogenital fistula (HP:0100589)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Low back pain (HP:0003419)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Severe short stature (HP:0003510)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Severe short stature (HP:0003510)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Posterior rib fusion (HP:0000913)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Posterior rib fusion (HP:0000913)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Missing ribs (HP:0000921)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Missing ribs (HP:0000921)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Rib fusion (HP:0000902)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Short thorax (HP:0010306)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Short thorax (HP:0010306)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Kyphosis (HP:0002808)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Broad forehead (HP:0000337)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Gene: TBX6
Phenotype: Short neck (HP:0000470)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: TBX6
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Short neck (HP:0000470)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX6
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Autosomal dominant spondylocostal dysplasia; Autosomal dominant spondylocostal dysostosis (ORPHA:1797)
Gene: TBX6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Facial hirsutism (HP:0009937)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Absent proximal finger flexion creases (HP:0006077)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Ambiguous genitalia, female (HP:0000061)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Ambiguous genitalia, male (HP:0000033)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Abnormal skull base morphology (HP:0002693)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Abnormality of the joint spaces of the elbow (HP:0003943)
Associated disease: Pelviscapular dysplasia; Cousin syndrome; Familial pelvis-scapular dysplasia (ORPHA:93333)
Gene: TBX15
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX15
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Rhizomelia (HP:0008905)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Cleft palate (HP:0000175)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX15
Phenotype: Microglossia (HP:0000171)
Associated disease: COUSIN SYNDROME (OMIM:260660)
Gene: TBX15
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: COUSIN SYNDROME (OMIM:260660)