TaoMedAI/RareMedData huggingface dataset:
Gene: GTF2I
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Visual impairment (HP:0000505)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Glaucoma (HP:0000501)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2I
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: BRF1
Phenotype: Tapered finger (HP:0001182)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Tapered finger (HP:0001182)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Poor speech (HP:0002465)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Fine hair (HP:0002213)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Fine hair (HP:0002213)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Taurodontia (HP:0000679)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Taurodontia (HP:0000679)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Short stature (HP:0004322)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Infancy onset short-trunk short stature (HP:0011406)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Slender long bone (HP:0003100)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Slender long bone (HP:0003100)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Hypoplasia of the midbrain (HP:0034259)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Proximal femoral epiphysiolysis (HP:0006461)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: S-shaped palpebral fissures (HP:0007835)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Laryngeal stridor (HP:0006511)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Laryngeal stridor (HP:0006511)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Strabismus (HP:0000486)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Strabismus (HP:0000486)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Short neck (HP:0000470)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Short neck (HP:0000470)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Pes planus (HP:0001763)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Cataract (HP:0000518)
Associated disease: CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
Gene: BRF1
Phenotype: Cataract (HP:0000518)
Associated disease: Cerebellofaciodental syndrome; Cerebellar-facial-dental syndrome (ORPHA:444072)
Gene: BRF1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BRF1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BRF1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GUCA1A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCA1A
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCA1A
Phenotype: Macular atrophy (HP:0007401)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCA1A
Phenotype: Macular atrophy (HP:0007401)
Associated disease: CONE DYSTROPHY 3 (OMIM:602093)
Gene: GUCA1A
Phenotype: Full-thickness macular hole (HP:0031152)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)