TaoMedAI/RareMedData huggingface dataset:
Gene: ACTA2
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Thoracic aortic aneurysm (HP:0012727)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Thoracic aortic aneurysm (HP:0012727)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 6 (OMIM:611788)
Gene: ACTA2
Phenotype: Mydriasis (HP:0011499)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Paroxysmal dyspnea (HP:0012763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Hypertension (HP:0000822)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Brachiocephalic artery aneurysm (HP:0034324)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Common carotid artery aneurysm (HP:0034325)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Retrognathia (HP:0000278)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Abdominal aortic aneurysm (HP:0005112)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Retinal infarction (HP:0007866)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 6 (OMIM:611788)
Gene: ACTA2
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Gene: ACTA2
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 6 (OMIM:611788)
Gene: ACTA2
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Pes planus (HP:0001763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTA2
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: ACTB
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Duplication of thumb phalanx (HP:0009942)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Microtia (HP:0008551)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Nevus (HP:0003764)
Associated disease: BECKER NEVUS SYNDROME (OMIM:604919)
Gene: ACTB
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
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: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Motor delay (HP:0001270)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Seizure (HP:0001250)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Seizure (HP:0001250)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Seizure (HP:0001250)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Hypotonia (HP:0001252)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Supernumerary nipple (HP:0002558)
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: Achalasia (HP:0002571)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Achalasia (HP:0002571)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Hypoplastic labia minora (HP:0000064)
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: Hydroureter (HP:0000072)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Abnormal scrotum morphology (HP:0000045)
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: Micropenis (HP:0000054)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Femoral retroversion (HP:0008796)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Femoral retroversion (HP:0008796)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Lissencephaly (HP:0001339)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Pachygyria (HP:0001302)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Pachygyria (HP:0001302)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Scoliosis (HP:0002650)
Associated disease: BECKER NEVUS SYNDROME (OMIM:604919)
Gene: ACTB
Phenotype: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Scoliosis (HP:0002650)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Platelet anisocytosis (HP:0032438)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Macroglossia (HP:0000158)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Wide mouth (HP:0000154)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Wide mouth (HP:0000154)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Wide mouth (HP:0000154)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY (OMIM:620470)
Gene: ACTB
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Short columella (HP:0002000)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Dysphagia (HP:0002015)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Midface retrusion (HP:0011800)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Upper limb asymmetry (HP:0100560)
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: Lower limb asymmetry (HP:0100559)
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: Lower limb spasticity (HP:0002061)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Lipoatrophy (HP:0100578)
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: Cerebral cortical atrophy (HP:0002120)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Hamartoma (HP:0010566)
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: Hamartoma (HP:0010566)
Associated disease: CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY (OMIM:620470)
Gene: ACTB
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Echolalia (HP:0010529)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Infantile onset (HP:0003593)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY (OMIM:620470)
Gene: ACTB
Phenotype: Congenital onset (HP:0003577)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Congenital onset (HP:0003577)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Gene: ACTB
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Gene: ACTB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Aphasia (HP:0002381)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Hypermelanotic macule (HP:0001034)
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: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Gene: ACTB
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Mutism (HP:0002300)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACTB
Phenotype: Retinoschisis (HP:0030502)
Associated disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Gene: ACTB
Phenotype: Duplication of phalanx of hallux (HP:0010066)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Gene: ACTB
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACTB
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)