TaoMedAI/RareMedData huggingface dataset:
Gene: RECQL4
Phenotype: Small hand (HP:0200055)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Erythema (HP:0010783)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Erythema (HP:0010783)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Absent thumb (HP:0009777)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Absent thumb (HP:0009777)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Short thumb (HP:0009778)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Chiari malformation (HP:0002308)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Short palm (HP:0004279)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Carpal bone aplasia (HP:0004231)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Leukemia (HP:0001909)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Anemia (HP:0001903)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Aplasia of metacarpal bones (HP:0010048)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Long upper lip (HP:0011341)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Microdontia (HP:0000691)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Microdontia (HP:0000691)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Bicoronal synostosis (HP:0011318)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Carious teeth (HP:0000670)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Short stature (HP:0004322)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Short stature (HP:0004322)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Short stature (HP:0004322)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Short stature (HP:0004322)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Short stature (HP:0004322)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Third trimester onset (HP:0034197)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Second trimester onset (HP:0034198)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Multiple skeletal anomalies (HP:0005775)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Flat forehead (HP:0004425)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Short nose (HP:0003196)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Short nose (HP:0003196)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Long nose (HP:0003189)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Rib fusion (HP:0000902)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Short humerus (HP:0005792)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Aphalangy of the hands (HP:0005886)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Osteoporosis (HP:0000939)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Osteopenia (HP:0000938)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Synostosis involving bones of the upper limbs (HP:0100238)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Sparse hair (HP:0008070)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Sparse hair (HP:0008070)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Finger aplasia (HP:0009380)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Epicanthus (HP:0000286)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Epicanthus (HP:0000286)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Epicanthus (HP:0000286)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Facial edema (HP:0000282)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Oxycephaly (HP:0000263)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Alopecia (HP:0001596)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Turricephaly (HP:0000262)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Narrow face (HP:0000275)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Long face (HP:0000276)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Forearm reduction defects (HP:0006368)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Large fontanelles (HP:0000239)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Brachycephaly (HP:0000248)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: High palate (HP:0000218)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: High palate (HP:0000218)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: High palate (HP:0000218)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: High palate (HP:0000218)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: High palate (HP:0000218)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: High palate (HP:0000218)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Melanoma (HP:0002861)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Metaphyseal striations (HP:0031367)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Small for gestational age (HP:0001518)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Growth delay (HP:0001510)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Growth delay (HP:0001510)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Overfolded helix (HP:0000396)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Anomalous splenoportal venous system (HP:0005201)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Stiff interphalangeal joints (HP:0005198)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Aplasia/Hypoplasia of the patella (HP:0006498)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Aplasia/Hypoplasia of the patella (HP:0006498)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Aplasia/Hypoplasia of the patella (HP:0006498)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: High myopia (HP:0011003)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Low-set ears (HP:0000369)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Broad forehead (HP:0000337)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Micrognathia (HP:0000347)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Micrognathia (HP:0000347)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Short chin (HP:0000331)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Genu varum (HP:0002970)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)