TaoMedAI/RareMedData huggingface dataset:
Gene: CSGALNACT1
Phenotype: Tapered humerus (HP:0003883)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Dislocated wrist (HP:0003994)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Abnormal femoral neck/head morphology (HP:0003366)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Spondylolysis (HP:0003304)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Bipartite calcaneus (HP:0008127)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Scapular winging (HP:0003691)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Small hand (HP:0200055)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Accessory carpal bones (HP:0004232)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Microdontia (HP:0000691)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Hypodontia (HP:0000668)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Short stature (HP:0004322)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Short stature (HP:0004322)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Limited knee extension (HP:0003066)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Arthropathy (HP:0003040)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Deviation of the 5th finger (HP:0009179)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Shield chest (HP:0000914)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Limited hip extension (HP:0003093)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Clinodactyly of the 2nd finger (HP:0040022)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Sparse hair (HP:0008070)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Diminished sulfotransferase activity in cultured fibroblasts (HP:6000970)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Malar flattening (HP:0000272)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Fixed elbow flexion (HP:0006471)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Generalized bone demineralization (HP:0006462)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Coxa vara (HP:0002812)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)