TaoMedAI/RareMedData huggingface dataset:
Gene: LEMD3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Tremor (HP:0001337)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Bone pain (HP:0002653)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Scoliosis (HP:0002650)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Melorheostosis (HP:6000817)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Sclerotic scapulae (HP:0001474)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Melorheostosis with osteopoikilosis; Mixed sclerosing bone dystrophy; MSBD syndrome (ORPHA:1879)
Gene: LEMD3
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Femoral osteopoikilosis (HP:6000943)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Abnormally ossified vertebrae (HP:0100569)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Keloids (HP:0010562)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Abnormal bone ossification (HP:0011849)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Congenital onset (HP:0003577)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Hyperostosis (HP:0100774)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Melorheostosis with osteopoikilosis; Mixed sclerosing bone dystrophy; MSBD syndrome (ORPHA:1879)
Gene: LEMD3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Epidermal nevus (HP:0010816)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Episodic pain (HP:0032148)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Osteopoikilosis (HP:0010739)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Osteopoikilosis (HP:0010739)
Associated disease: Melorheostosis with osteopoikilosis; Mixed sclerosing bone dystrophy; MSBD syndrome (ORPHA:1879)
Gene: LEMD3
Phenotype: Osteopoikilosis (HP:0010739)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Sclerotic foci in hand bones (HP:0004289)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Sclerotic foci within carpal bones (HP:0004240)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Dacryocystitis (HP:0000620)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Complete duplication of the distal phalanges of the hand (HP:0010001)
Associated disease: Melorheostosis with osteopoikilosis; Mixed sclerosing bone dystrophy; MSBD syndrome (ORPHA:1879)
Gene: LEMD3
Phenotype: Abnormal long bone morphology (HP:0011314)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Hypodontia (HP:0000668)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Synophrys (HP:0000664)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Abnormal pelvis bone ossification (HP:0009106)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Melorheostosis with osteopoikilosis; Mixed sclerosing bone dystrophy; MSBD syndrome (ORPHA:1879)
Gene: LEMD3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Scleroderma (HP:0100324)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Hypertension (HP:0000822)
Associated disease: Melorheostosis with osteopoikilosis; Mixed sclerosing bone dystrophy; MSBD syndrome (ORPHA:1879)
Gene: LEMD3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Abnormality of limb bone (HP:0040068)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Hip pain (HP:0030838)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Ankle pain (HP:0030840)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Melorheostosis with osteopoikilosis; Mixed sclerosing bone dystrophy; MSBD syndrome (ORPHA:1879)
Gene: LEMD3
Phenotype: Abnormal pelvis bone morphology (HP:0040163)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Arthralgia (HP:0002829)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Hoarse voice (HP:0001609)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Triangular face (HP:0000325)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Abnormal nostril morphology (HP:0005288)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Wide nose (HP:0000445)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Mandibular aplasia (HP:0009939)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Anotia (HP:0009892)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Microtia (HP:0008551)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Motor delay (HP:0001270)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Small scrotum (HP:0000046)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Epispadias (HP:0000039)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Micropenis (HP:0000054)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Hypospadias (HP:0000047)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Hypospadias (HP:0000047)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)