TaoMedAI/RareMedData huggingface dataset:
Gene: GDF6
Phenotype: Ultra-low vision with retained motion projection (HP:0032284)
Associated disease: LEBER CONGENITAL AMAUROSIS 17 (OMIM:615360)
Gene: GDF6
Phenotype: Spina bifida (HP:0002414)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF6
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Synkinesis (HP:0034980)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEBER CONGENITAL AMAUROSIS 17 (OMIM:615360)
Gene: GDF6
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 4 (OMIM:617898)
Gene: GDF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA, ISOLATED 4 (OMIM:613094)
Gene: GDF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Scoliosis (HP:0002650)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Cleft palate (HP:0000175)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Cleft palate (HP:0000175)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF6
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF6
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Anal atresia (HP:0002023)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Congenital muscular torticollis (HP:0005988)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Congenital muscular torticollis (HP:0005988)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Limitation of neck motion (HP:0005986)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Absent testis (HP:0010469)
Associated disease: MICROPHTHALMIA, ISOLATED 4 (OMIM:613094)
Gene: GDF6
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF6
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 4 (OMIM:617898)
Gene: GDF6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Headache (HP:0002315)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF6
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Short palm (HP:0004279)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Nystagmus (HP:0000639)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Broad thumb (HP:0011304)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF6
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Abnormal vertebral segmentation and fusion (HP:0005640)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Abnormal vertebral segmentation and fusion (HP:0005640)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Abnormal shoulder morphology (HP:0003043)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Neck pain (HP:0030833)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: MICROPHTHALMIA, ISOLATED 4 (OMIM:613094)
Gene: GDF6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF6
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF6
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Abnormal limb bone morphology (HP:0002813)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Otosclerosis (HP:0000362)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 4 (OMIM:617898)
Gene: GDF6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)