TaoMedAI/RareMedData huggingface dataset:
Gene: FLNA
Phenotype: Broad hallux (HP:0010055)
Associated disease: FG SYNDROME 2 (OMIM:300321)
Gene: FLNA
Phenotype: Broad hallux (HP:0010055)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Broad hallux (HP:0010055)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Short 3rd metacarpal (HP:0010041)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Localized skin lesion (HP:0011355)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Frontal hirsutism (HP:0011335)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Anodontia (HP:0000674)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Anodontia (HP:0000674)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Oligodontia (HP:0000677)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Oligodontia (HP:0000677)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Oligodontia (HP:0000677)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Tooth malposition (HP:0000692)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Tooth malposition (HP:0000692)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Natal tooth (HP:0000695)
Associated disease: Neuronal intestinal pseudoobstruction (ORPHA:99811)
Gene: FLNA
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Broad thumb (HP:0011304)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Broad thumb (HP:0011304)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Decreased body weight (HP:0004325)
Associated disease: FG SYNDROME 2 (OMIM:300321)
Gene: FLNA
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked Ehlers-Danlos syndrome; EDS V; Ehlers-Danlos syndrome type 5; X-linked EDS (ORPHA:75497)
Gene: FLNA
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: FLNA
Phenotype: Short stature (HP:0004322)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Short stature (HP:0004322)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Short stature (HP:0004322)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Short stature (HP:0004322)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Neuronal intestinal pseudoobstruction (ORPHA:99811)
Gene: FLNA
Phenotype: Abnormal vertebral segmentation and fusion (HP:0005640)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Abnormal vertebral segmentation and fusion (HP:0005640)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: X-linked Ehlers-Danlos syndrome; EDS V; Ehlers-Danlos syndrome type 5; X-linked EDS (ORPHA:75497)
Gene: FLNA
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Pectus excavatum (HP:0000767)
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: Pectus excavatum (HP:0000767)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: FG SYNDROME 2 (OMIM:300321)
Gene: FLNA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Osteolysis involving bones of the lower limbs (HP:0009139)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Short hallux (HP:0010109)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Short hallux (HP:0010109)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Short hallux (HP:0010109)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Short hallux (HP:0010109)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Narrow chest (HP:0000774)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Narrow chest (HP:0000774)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Narrow chest (HP:0000774)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Narrow chest (HP:0000774)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Short ribs (HP:0000773)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Neuronal intestinal pseudoobstruction (ORPHA:99811)
Gene: FLNA
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Short nose (HP:0003196)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Short nose (HP:0003196)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Abnormal pubic bone morphology (HP:0003172)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FLNA
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Short humerus (HP:0005792)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Right atrial enlargement (HP:0030718)
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: Hypoplastic scapulae (HP:0000882)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Short chordae tendineae of the mitral valve (HP:0011580)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Short clavicles (HP:0000894)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Short clavicles (HP:0000894)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Congenital shortened small intestine (HP:0030889)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Osteolysis involving bones of the upper limbs (HP:0045039)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Elbow contracture (HP:0034391)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Abdominal distention (HP:0003270)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Dilatation of the sinus of Valsalva (HP:0011645)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Stridor (HP:0010307)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Short thorax (HP:0010306)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Short thorax (HP:0010306)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: X-linked Ehlers-Danlos syndrome; EDS V; Ehlers-Danlos syndrome type 5; X-linked EDS (ORPHA:75497)
Gene: FLNA
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: X-linked Ehlers-Danlos syndrome; EDS V; Ehlers-Danlos syndrome type 5; X-linked EDS (ORPHA:75497)
Gene: FLNA
Phenotype: Hyperextensible skin (HP:0000974)
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: Cutis laxa (HP:0000973)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Thin skin (HP:0000963)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Thin skin (HP:0000963)
Associated disease: X-linked Ehlers-Danlos syndrome; EDS V; Ehlers-Danlos syndrome type 5; X-linked EDS (ORPHA:75497)
Gene: FLNA
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Short diaphyses (HP:0000941)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Partial fusion of tarsals (HP:0008097)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Pes valgus (HP:0008081)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Nonossified fifth metatarsal (HP:0008087)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Abnormality of the fifth metatarsal bone (HP:0008089)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Sparse hair (HP:0008070)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: FLNA
Phenotype: Short finger (HP:0009381)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Epicanthus (HP:0000286)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Epicanthus (HP:0000286)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Broad face (HP:0000283)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Full cheeks (HP:0000293)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Full cheeks (HP:0000293)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Alopecia (HP:0001596)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Selective tooth agenesis (HP:0001592)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Selective tooth agenesis (HP:0001592)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Small face (HP:0000274)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Malar flattening (HP:0000272)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Malar flattening (HP:0000272)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Prominent occiput (HP:0000269)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Increased density of long bone diaphyses (HP:0006440)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Lateral femoral bowing (HP:0005090)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Hip dislocation (HP:0002827)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Hip dislocation (HP:0002827)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Clinodactyly (HP:0030084)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Rudimentary fibula (HP:0006381)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Progressive bowing of long bones (HP:0006383)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Limited knee flexion (HP:0006389)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Multiple impacted teeth (HP:0001571)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Large fontanelles (HP:0000239)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Respiratory failure (HP:0002878)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Anisospondyly (HP:0002879)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: High palate (HP:0000218)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Genu valgum (HP:0002857)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Genu valgum (HP:0002857)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)