TaoMedAI/RareMedData huggingface dataset:
Gene: FLNA
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: X-linked Ehlers-Danlos syndrome; EDS V; Ehlers-Danlos syndrome type 5; X-linked EDS (ORPHA:75497)
Gene: FLNA
Phenotype: Omphalocele (HP:0001539)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Omphalocele (HP:0001539)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Omphalocele (HP:0001539)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Omphalocele (HP:0001539)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Omphalocele (HP:0001539)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Growth delay (HP:0001510)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Flat face (HP:0012368)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Intestinal hypoplasia (HP:0005245)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: FLNA
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Hoarse voice (HP:0001609)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia (ORPHA:555877)
Gene: FLNA
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Low-set ears (HP:0000369)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Low-set ears (HP:0000369)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Low-set ears (HP:0000369)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Neuronal intestinal pseudoobstruction (ORPHA:99811)
Gene: FLNA
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Long philtrum (HP:0000343)
Associated disease: FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia (ORPHA:555877)
Gene: FLNA
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Broad forehead (HP:0000337)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FLNA
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Widow's peak (HP:0000349)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Micrognathia (HP:0000347)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Micrognathia (HP:0000347)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Micrognathia (HP:0000347)
Associated disease: FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia (ORPHA:555877)
Gene: FLNA
Phenotype: Micrognathia (HP:0000347)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Micrognathia (HP:0000347)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Micrognathia (HP:0000347)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Tibial bowing (HP:0002982)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Femoral bowing (HP:0002980)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Femoral bowing (HP:0002980)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia (ORPHA:555877)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia (ORPHA:555877)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia (ORPHA:555877)
Gene: FLNA
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Neuronal intestinal pseudoobstruction (ORPHA:99811)
Gene: FLNA
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Short chin (HP:0000331)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia (ORPHA:555877)
Gene: FLNA
Phenotype: Radial bowing (HP:0002986)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia (ORPHA:555877)
Gene: FLNA
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FLNA
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Pointed chin (HP:0000307)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia (ORPHA:555877)
Gene: FLNA
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Moderate myopia (HP:0031624)
Associated disease: FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia (ORPHA:555877)
Gene: FLNA
Phenotype: Short chordae tendineae of the tricuspid valve (HP:0006692)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Coat hanger sign of ribs (HP:0006665)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Macrotia (HP:0000400)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Astigmatism (HP:0000483)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Strabismus (HP:0000486)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Strabismus (HP:0000486)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Long neck (HP:0000472)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Short neck (HP:0000470)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Pes planus (HP:0001763)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Pes planus (HP:0001763)
Associated disease: FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia (ORPHA:555877)
Gene: FLNA
Phenotype: Bulbous tips of toes (HP:0001782)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Bulbous tips of toes (HP:0001782)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Protruding ear (HP:0000411)
Associated disease: FG SYNDROME 2 (OMIM:300321)
Gene: FLNA
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Pes cavus (HP:0001761)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Obtuse angle of mandible (HP:0005446)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Abnormality of the tarsal bones (HP:0001850)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Cataract (HP:0000518)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Cataract (HP:0000518)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)