TaoMedAI/RareMedData huggingface dataset:
Gene: LTBP1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Abnormal systemic arterial morphology (HP:0011004)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Genu varum (HP:0002970)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Dilatation of the ventricular cavity (HP:0006698)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Proptosis (HP:0000520)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
Gene: LTBP2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Epiphora (HP:0009926)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
Gene: LTBP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
Gene: LTBP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLAUCOMA 3, PRIMARY INFANTILE, B (OMIM:600975)
Gene: LTBP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, D (OMIM:613086)
Gene: LTBP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Microspherophakia (HP:0030961)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Microspherophakia (HP:0030961)
Associated disease: WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
Gene: LTBP2
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Thickened skin (HP:0001072)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Iris atrophy (HP:0001089)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, D (OMIM:613086)
Gene: LTBP2
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
Gene: LTBP2
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Iridodonesis (HP:0100693)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Iridodonesis (HP:0100693)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Short thumb (HP:0009778)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Amblyopia (HP:0000646)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Photophobia (HP:0000613)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, D (OMIM:613086)
Gene: LTBP2
Phenotype: Photophobia (HP:0000613)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Short stature (HP:0004322)
Associated disease: WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
Gene: LTBP2
Phenotype: Short stature (HP:0004322)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Anisometropia (HP:0012803)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Primary congenital glaucoma (HP:0008007)
Associated disease: GLAUCOMA 3, PRIMARY INFANTILE, B (OMIM:600975)
Gene: LTBP2
Phenotype: Primary congenital glaucoma (HP:0008007)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, D (OMIM:613086)
Gene: LTBP2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Deep anterior chamber (HP:0007765)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Deep anterior chamber (HP:0007765)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: High palate (HP:0000218)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: High myopia (HP:0011003)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: High myopia (HP:0011003)
Associated disease: WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
Gene: LTBP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
Gene: LTBP2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
Gene: LTBP2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, D (OMIM:613086)
Gene: LTBP2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
Gene: LTBP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Megalocornea (HP:0000485)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Megalocornea (HP:0000485)
Associated disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA (OMIM:251750)
Gene: LTBP2
Phenotype: Reduced anterior scleral thickness (HP:0025751)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: LTBP2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Cataract (HP:0000518)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: LTBP2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)