TaoMedAI/RareMedData huggingface dataset:
Gene: LMBR1
Phenotype: Broad foot (HP:0001769)
Associated disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Gene: LMBR1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Prominent nose (HP:0000448)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Gene: LMBR1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMBR1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Gene: LMBR1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LMBR1
Phenotype: Talipes (HP:0001883)
Associated disease: Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Laurin-Sandrow syndrome (ORPHA:2378)
Gene: LMBR1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Split hand (HP:0001171)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Scoliosis (HP:0002650)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Wide mouth (HP:0000154)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Congenital onset (HP:0003577)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Open bite (HP:0010807)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Broad hallux (HP:0010055)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Broad thumb (HP:0011304)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Broad thumb (HP:0011304)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Hypodontia (HP:0000668)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Short stature (HP:0004322)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Ectopic anus (HP:0004397)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Mesomelia (HP:0003027)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Mesomelia (HP:0003027)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Short nose (HP:0003196)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Short nose (HP:0003196)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Rib fusion (HP:0000902)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Hypoplastic female external genitalia (HP:0012815)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Absent uvula (HP:0010292)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Bifid tongue (HP:0010297)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Sacral dimple (HP:0000960)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Epicanthus (HP:0000286)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Alopecia (HP:0001596)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Clinodactyly (HP:0030084)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Kyphosis (HP:0002808)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Death in infancy (HP:0001522)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Omphalocele (HP:0001539)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Triangular mouth (HP:0000207)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Ventral hernia (HP:0002933)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)