TaoMedAI/RareMedData huggingface dataset:
Gene: FBLN1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Drooling (HP:0002307)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: SYNPOLYDACTYLY 2 (OMIM:608180)
Gene: FBLN1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FARSA
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Scoliosis (HP:0002650)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Short stature (HP:0004322)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Cough (HP:0012735)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Fetal onset (HP:0011461)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Elfin facies (HP:0004428)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Microcephaly (HP:0000252)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FARSA
Phenotype: Deeply set eye (HP:0000490)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Gene: FAT2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 45 (OMIM:617769)
Gene: FAT2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 45 (OMIM:617769)
Gene: FAT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 45 (OMIM:617769)
Gene: FAT2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 45 (OMIM:617769)
Gene: FAT2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 45 (OMIM:617769)
Gene: FAT2
Phenotype: Downbeat nystagmus (HP:0010545)
Associated disease: SPINOCEREBELLAR ATAXIA 45 (OMIM:617769)
Gene: FAT2
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 45 (OMIM:617769)
Gene: FAT2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 45 (OMIM:617769)
Gene: FBN1
Phenotype: Broad palm (HP:0001169)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MASS SYNDROME (OMIM:604308)
Gene: FBN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FBN1
Phenotype: Lateral ventricular asymmetry (HP:0100960)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: FBN1
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FBN1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Long fingers (HP:0100807)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Long fingers (HP:0100807)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Motor delay (HP:0001270)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Motor delay (HP:0001270)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBN1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Tall stature (HP:0000098)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Gene: FBN1
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FBN1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: FBN1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Stiff skin syndrome (ORPHA:2833)
Gene: FBN1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: FBN1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Familial ectopia lentis; Isolated ectopia lentis; Ectopia lentis syndrome (ORPHA:1885)
Gene: FBN1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Acromicric dysplasia (ORPHA:969)
Gene: FBN1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Gene: FBN1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Gene: FBN1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: FBN1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Gene: FBN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: FBN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: FBN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: FBN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Gene: FBN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: FBN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBN1
Phenotype: Lens luxation (HP:0012019)
Associated disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)