TaoMedAI/RareMedData huggingface dataset:
Gene: LRP2
Phenotype: Myopia (HP:0000545)
Associated disease: Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; DBS/FOAR syndrome; Holmes-Schepens syndrome; FOAR syndrome; Syndrome of ocular and facial anomalies, telecanthus and deafness; Syndrome of ocular and facial anomalies, telecanthus and hearing loss; Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome; Donnai-Barrow syndrome; Facio-oculo-acoustico-renal syndrome; Diaphragmatic hernia-exomphalos-hypertelorism syndrome (ORPHA:2143)
Gene: LRP4
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Syndactyly (HP:0001159)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 17 (OMIM:616304)
Gene: LRP4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 17 (OMIM:616304)
Gene: LRP4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 17 (OMIM:616304)
Gene: LRP4
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Tall stature (HP:0000098)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 17 (OMIM:616304)
Gene: LRP4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 17 (OMIM:616304)
Gene: LRP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Triceps weakness (HP:0031108)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Premature loss of permanent teeth (HP:0006357)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Abnormality of the musculature of the upper limbs (HP:0001446)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Renal agenesis (HP:0000104)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Decreased miniature endplate potentials (HP:0003402)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 17 (OMIM:616304)
Gene: LRP4
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Tetraparesis (HP:0002273)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 17 (OMIM:616304)
Gene: LRP4
Phenotype: Congenital onset (HP:0003577)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Metacarpal synostosis (HP:0009701)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 17 (OMIM:616304)
Gene: LRP4
Phenotype: Facial palsy (HP:0010628)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Facial palsy (HP:0010628)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Facial palsy (HP:0010628)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Vertigo (HP:0002321)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Drowsiness (HP:0002329)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Curved distal phalanges of the hand (HP:0009838)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Short thumb (HP:0009778)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Diplopia (HP:0000651)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Broad hallux (HP:0010055)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Ectropion (HP:0000656)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Hypodontia (HP:0000668)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Hypodontia (HP:0000668)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Orthopnea (HP:0012764)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Short nose (HP:0003196)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Cyanosis (HP:0000961)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Short finger (HP:0009381)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Malar flattening (HP:0000272)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Malar flattening (HP:0000272)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: High palate (HP:0000218)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)
Gene: LRP4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Fatigable weakness of neck muscles (HP:0030199)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: LRP4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: LRP4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SCLEROSTEOSIS 2 (OMIM:614305)
Gene: LRP4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRP4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRP4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Gene: LRP4
Phenotype: Micrognathia (HP:0000347)
Associated disease: CENANI-LENZ SYNDACTYLY SYNDROME (OMIM:212780)