TaoMedAI/RareMedData huggingface dataset:
Gene: TFAP2A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Sparse hair (HP:0008070)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Malar flattening (HP:0000272)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Kyphosis (HP:0002808)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: High palate (HP:0000218)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Overfolded helix (HP:0000396)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Low-set ears (HP:0000369)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Small forehead (HP:0000350)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Micrognathia (HP:0000347)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Strabismus (HP:0000486)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Strabismus (HP:0000486)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Microcornea (HP:0000482)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Short neck (HP:0000470)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Short nasal septum (HP:0000420)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Fusion of middle ear ossicles (HP:0005473)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Cataract (HP:0000518)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Cataract (HP:0000518)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Anophthalmia (HP:0000528)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Telecanthus (HP:0000506)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Ptosis (HP:0000508)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Ptosis (HP:0000508)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Coloboma (HP:0000589)
Associated disease: BOFS; Branchio-oculo-facial syndrome (ORPHA:1297)
Gene: TFAP2A
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2A
Phenotype: Myopia (HP:0000545)
Associated disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Gene: TFAP2B
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Parasomnia (HP:0025234)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Mesoaxial hand polydactyly (HP:0006159)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PATENT DUCTUS ARTERIOSUS 2 (OMIM:617035)
Gene: TFAP2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TFAP2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Congenital onset (HP:0003577)
Associated disease: PATENT DUCTUS ARTERIOSUS 2 (OMIM:617035)
Gene: TFAP2B
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: PATENT DUCTUS ARTERIOSUS 2 (OMIM:617035)
Gene: TFAP2B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TFAP2B
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Symphalangism of the 5th finger (HP:0004218)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Mesoaxial foot polydactyly (HP:0010112)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TFAP2B
Phenotype: Distal/middle symphalangism of 5th finger (HP:0009244)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Malar flattening (HP:0000272)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Triangular mouth (HP:0000207)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Triangular mouth (HP:0000207)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Low-set ears (HP:0000369)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Broad forehead (HP:0000337)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TFAP2B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PATENT DUCTUS ARTERIOSUS 2 (OMIM:617035)
Gene: TFAP2B
Phenotype: Short philtrum (HP:0000322)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Short philtrum (HP:0000322)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TFAP2B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Strabismus (HP:0000486)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Strabismus (HP:0000486)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Protruding ear (HP:0000411)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TFAP2B
Phenotype: Ptosis (HP:0000508)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Ptosis (HP:0000508)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: TFAP2B
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CHAR SYNDROME (OMIM:169100)
Gene: TFAP2B
Phenotype: Myopia (HP:0000545)
Associated disease: Char syndrome; Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (ORPHA:46627)
Gene: NR2F1
Phenotype: Tapered finger (HP:0001182)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Tapered finger (HP:0001182)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Abnormal hippocampus morphology (HP:0025100)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Visual field defect (HP:0001123)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Visual field defect (HP:0001123)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Seizure (HP:0001250)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Hypotonia (HP:0001252)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Hypotonia (HP:0001252)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Spasticity (HP:0001257)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Spasticity (HP:0001257)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Absent speech (HP:0001344)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Wide mouth (HP:0000154)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Nystagmus (HP:0000639)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Amblyopia (HP:0000646)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Short stature (HP:0004322)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Autism (HP:0000717)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Short nasal bridge (HP:0003194)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Epicanthus (HP:0000286)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Epicanthus (HP:0000286)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Retrognathia (HP:0000278)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: High palate (HP:0000218)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Pointed chin (HP:0000307)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)