TaoMedAI/RareMedData huggingface dataset:
Gene: LETM1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Epicanthus (HP:0000286)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Abnormality of the philtrum (HP:0000288)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Kyphosis (HP:0002808)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Growth delay (HP:0001510)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Abnormality of the gallbladder (HP:0005264)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: High forehead (HP:0000348)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: High forehead (HP:0000348)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Micrognathia (HP:0000347)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Short philtrum (HP:0000322)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Strabismus (HP:0000486)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Strabismus (HP:0000486)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Megalocornea (HP:0000485)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Webbed neck (HP:0000465)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Cataract (HP:0000518)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Proptosis (HP:0000520)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Proptosis (HP:0000520)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Ptosis (HP:0000508)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Ptosis (HP:0000508)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Gene: LETM1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: LETM1
Phenotype: Hyperconvex fingernails (HP:0001812)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LETM1
Phenotype: Rieger anomaly (HP:0000558)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: LFNG
Phenotype: Meningocele (HP:0002435)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Slender finger (HP:0001238)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
Gene: LFNG
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Hypospadias (HP:0000047)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
Gene: LFNG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
Gene: LFNG
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
Gene: LFNG
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Urogenital fistula (HP:0100589)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
Gene: LFNG
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
Gene: LFNG
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
Gene: LFNG
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
Gene: LFNG
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Rib fusion (HP:0000902)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Rib fusion (HP:0000902)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
Gene: LFNG
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)