TaoMedAI/RareMedData huggingface dataset:
Gene: ACTB
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Blindness (HP:0000618)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Iris coloboma (HP:0000612)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Synophrys (HP:0000664)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Short stature (HP:0004322)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Short stature (HP:0004322)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Leg dystonia (HP:0031959)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: BECKER NEVUS SYNDROME (OMIM:604919)
Gene: ACTB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Becker nevus syndrome; Becker naevus syndrome; Pigmented hairy epidermal naevus; Pigmentary hairy epidermal nevus; Becker melanosis; Pigmented hairy epidermal nevus (ORPHA:64755)
Gene: ACTB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Becker nevus syndrome; Becker naevus syndrome; Pigmented hairy epidermal naevus; Pigmentary hairy epidermal nevus; Becker melanosis; Pigmented hairy epidermal nevus (ORPHA:64755)
Gene: ACTB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Euryblepharon (HP:0012905)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Short nose (HP:0003196)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Cerebral cortical hemiatrophy (HP:0100308)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Long nose (HP:0003189)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Rib fusion (HP:0000902)
Associated disease: Becker nevus syndrome; Becker naevus syndrome; Pigmented hairy epidermal naevus; Pigmentary hairy epidermal nevus; Becker melanosis; Pigmented hairy epidermal nevus (ORPHA:64755)
Gene: ACTB
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Cervical ribs (HP:0000891)
Associated disease: BECKER NEVUS SYNDROME (OMIM:604919)
Gene: ACTB
Phenotype: Unilateral breast hypoplasia (HP:0012813)
Associated disease: BECKER NEVUS SYNDROME (OMIM:604919)
Gene: ACTB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Anti-platelet antigen antibody positivity (HP:4000170)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Becker nevus syndrome; Becker naevus syndrome; Pigmented hairy epidermal naevus; Pigmentary hairy epidermal nevus; Becker melanosis; Pigmented hairy epidermal nevus (ORPHA:64755)
Gene: ACTB
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY (OMIM:620470)
Gene: ACTB
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: Becker nevus syndrome; Becker naevus syndrome; Pigmented hairy epidermal naevus; Pigmentary hairy epidermal nevus; Becker melanosis; Pigmented hairy epidermal nevus (ORPHA:64755)
Gene: ACTB
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: Becker nevus syndrome; Becker naevus syndrome; Pigmented hairy epidermal naevus; Pigmentary hairy epidermal nevus; Becker melanosis; Pigmented hairy epidermal nevus (ORPHA:64755)
Gene: ACTB
Phenotype: Osteochondrosis (HP:0040188)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Epicanthus (HP:0000286)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Epicanthus (HP:0000286)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Epicanthus (HP:0000286)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Retrognathia (HP:0000278)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Retrognathia (HP:0000278)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Full cheeks (HP:0000293)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Kyphosis (HP:0002808)
Associated disease: Becker nevus syndrome; Becker naevus syndrome; Pigmented hairy epidermal naevus; Pigmentary hairy epidermal nevus; Becker melanosis; Pigmented hairy epidermal nevus (ORPHA:64755)
Gene: ACTB
Phenotype: Kyphosis (HP:0002808)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Microcephaly (HP:0000252)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Microcephaly (HP:0000252)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: High palate (HP:0000218)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY (OMIM:620470)
Gene: ACTB
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Small for gestational age (HP:0001518)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Growth delay (HP:0001510)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Overfolded helix (HP:0000396)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Overfolded helix (HP:0000396)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: BECKER NEVUS SYNDROME (OMIM:604919)
Gene: ACTB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Low-set ears (HP:0000369)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Long philtrum (HP:0000343)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Long philtrum (HP:0000343)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: High forehead (HP:0000348)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: High forehead (HP:0000348)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Micrognathia (HP:0000347)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Micromelia (HP:0002983)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Micromelia (HP:0002983)
Associated disease: Becker nevus syndrome; Becker naevus syndrome; Pigmented hairy epidermal naevus; Pigmentary hairy epidermal nevus; Becker melanosis; Pigmented hairy epidermal nevus (ORPHA:64755)
Gene: ACTB
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Abnormal tibia morphology (HP:0002992)
Associated disease: Becker nevus syndrome; Becker naevus syndrome; Pigmented hairy epidermal naevus; Pigmentary hairy epidermal nevus; Becker melanosis; Pigmented hairy epidermal nevus (ORPHA:64755)
Gene: ACTB
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Pointed chin (HP:0000307)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Pointed chin (HP:0000307)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Pointed chin (HP:0000307)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Microcornea (HP:0000482)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Deeply set eye (HP:0000490)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Short neck (HP:0000470)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Short neck (HP:0000470)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Webbed neck (HP:0000465)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Prominent nose (HP:0000448)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Wide nose (HP:0000445)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Bulbous nose (HP:0000414)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Cataract (HP:0000518)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Cataract (HP:0000518)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Overlapping toe (HP:0001845)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Long eyelashes (HP:0000527)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Telecanthus (HP:0000506)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Telecanthus (HP:0000506)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Ptosis (HP:0000508)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Ptosis (HP:0000508)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTC1
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ACTC1
Phenotype: Stroke (HP:0001297)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Syncope (HP:0001279)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Gene: ACTC1
Phenotype: Syncope (HP:0001279)
Associated disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Gene: ACTC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)