TaoMedAI/RareMedData huggingface dataset:
Gene: SMARCA2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Sandal gap (HP:0001852)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Sandal gap (HP:0001852)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: NICOLAIDES-BARAITSER SYNDROME (OMIM:601358)
Gene: SMARCA2
Phenotype: Ptosis (HP:0000508)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Nicolaides-Baraitser syndrome; Intellectual disability-sparse hair-brachydactyly syndrome (ORPHA:3051)
Gene: SMARCA2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME (OMIM:619293)
Gene: SMARCA4
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Seizure (HP:0001250)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Seizure (HP:0001250)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Hypotonia (HP:0001252)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Hypospadias (HP:0000047)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Prominent interphalangeal joints (HP:0006237)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Absent speech (HP:0001344)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Absent speech (HP:0001344)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 2 (OMIM:613325)
Gene: SMARCA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMARCA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOSCLEROSIS 12 (OMIM:620792)
Gene: SMARCA4
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Scoliosis (HP:0002650)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Macroglossia (HP:0000158)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Cleft palate (HP:0000175)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Wide mouth (HP:0000154)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Wide mouth (HP:0000154)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Floppy infant (HP:0008947)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Recurrent infections (HP:0002719)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Atypical teratoid/rhabdoid tumor (HP:0034401)
Associated disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 2 (OMIM:613325)
Gene: SMARCA4
Phenotype: Rhabdoid tumor of the kidney (HP:0034402)
Associated disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 2 (OMIM:613325)
Gene: SMARCA4
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Infantile onset (HP:0003593)
Associated disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 2 (OMIM:613325)
Gene: SMARCA4
Phenotype: Late onset (HP:0003584)
Associated disease: OTOSCLEROSIS 12 (OMIM:620792)
Gene: SMARCA4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Hernia (HP:0100790)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Hirsutism (HP:0001007)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMARCA4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Short stature (HP:0004322)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Childhood onset (HP:0011463)
Associated disease: OTOSCLEROSIS 12 (OMIM:620792)
Gene: SMARCA4
Phenotype: Young adult onset (HP:0011462)
Associated disease: OTOSCLEROSIS 12 (OMIM:620792)
Gene: SMARCA4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Short nose (HP:0003196)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMARCA4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Short phalanx of the 5th toe (HP:0100368)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Wide nasal base (HP:0012810)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Mitral atresia (HP:0011560)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Short 5th finger (HP:0009237)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Microcephaly (HP:0000252)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Growth delay (HP:0001510)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Otosclerosis (HP:0000362)
Associated disease: OTOSCLEROSIS 12 (OMIM:620792)
Gene: SMARCA4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OTOSCLEROSIS 12 (OMIM:620792)
Gene: SMARCA4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Long philtrum (HP:0000343)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMARCA4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Short philtrum (HP:0000322)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMARCA4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Strabismus (HP:0000486)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Small nail (HP:0001792)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)