TaoMedAI/RareMedData huggingface dataset:
Gene: FLNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FLNA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Scoliosis (HP:0002650)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: FG SYNDROME 2 (OMIM:300321)
Gene: FLNA
Phenotype: Wormian bones (HP:0002645)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Narrow palate (HP:0000189)
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: Thick lower lip vermilion (HP:0000179)
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: Hyperpigmented papule (HP:0025473)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Narrow mouth (HP:0000160)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Narrow mouth (HP:0000160)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Narrow mouth (HP:0000160)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Glossoptosis (HP:0000162)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Bilateral ptosis (HP:0001488)
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: Cleft palate (HP:0000175)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Cleft palate (HP:0000175)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Cleft palate (HP:0000175)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Cleft palate (HP:0000175)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Cleft palate (HP:0000175)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Cleft palate (HP:0000175)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Cleft palate (HP:0000175)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Cleft palate (HP:0000175)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Mesomelic arm shortening (HP:0005011)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Shoulder muscle hypoplasia (HP:0008952)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Large foramen magnum (HP:0002700)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Limited wrist movement (HP:0006248)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Thick skull base (HP:0002737)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Hypoplastic frontal sinuses (HP:0002738)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Hypoplastic frontal sinuses (HP:0002738)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: FG SYNDROME 2 (OMIM:300321)
Gene: FLNA
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Neuronal intestinal pseudoobstruction (ORPHA:99811)
Gene: FLNA
Phenotype: Recurrent infections (HP:0002719)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Malabsorption (HP:0002024)
Associated disease: Neuronal intestinal pseudoobstruction (ORPHA:99811)
Gene: FLNA
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: X-linked Ehlers-Danlos syndrome; EDS V; Ehlers-Danlos syndrome type 5; X-linked EDS (ORPHA:75497)
Gene: FLNA
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Constipation (HP:0002019)
Associated disease: FG SYNDROME 2 (OMIM:300321)
Gene: FLNA
Phenotype: Increased size of the mandible (HP:0040309)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Large forehead (HP:0002003)
Associated disease: FG SYNDROME 2 (OMIM:300321)
Gene: FLNA
Phenotype: Abnormal bone structure (HP:0003330)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Vomiting (HP:0002013)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Spondylolysis (HP:0003304)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Encephalocele (HP:0002084)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: FLNA
Phenotype: Dyspnea (HP:0002094)
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: Pulmonary arterial hypertension (HP:0002092)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
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: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Pulmonic regurgitation (HP:0010444)
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 deviation of the 2nd finger (HP:0009467)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Bipartite calcaneus (HP:0008127)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: FLNA
Phenotype: Anterior concavity of thoracic vertebrae (HP:0004611)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Anteriorly placed odontoid process (HP:0004608)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Vertical clivus (HP:0010559)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Keloids (HP:0010562)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Undulate clavicles (HP:0010560)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Limitation of movement at ankles (HP:0010505)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Limitation of knee mobility (HP:0010501)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Congenital onset (HP:0003577)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: FG SYNDROME 2 (OMIM:300321)
Gene: FLNA
Phenotype: Coarse hair (HP:0002208)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Hernia (HP:0100790)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Hernia (HP:0100790)
Associated disease: X-linked Ehlers-Danlos syndrome; EDS V; Ehlers-Danlos syndrome type 5; X-linked EDS (ORPHA:75497)
Gene: FLNA
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Abnormal foot bone ossification (HP:0010675)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Abnormal hand bone ossification (HP:0010660)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Short distal phalanx of the thumb (HP:0009650)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Broad distal phalanx of the thumb (HP:0009642)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Fibroma (HP:0010614)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Scapular winging (HP:0003691)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Hirsutism (HP:0001007)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Mesomelic leg shortening (HP:0004987)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: FLNA
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Short thumb (HP:0009778)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Short thumb (HP:0009778)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Short thumb (HP:0009778)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Short metatarsal (HP:0010743)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Broad phalanges of the hand (HP:0009768)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FLNA
Phenotype: Short palm (HP:0004279)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Short palm (HP:0004279)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Accessory carpal bones (HP:0004232)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Amblyopia (HP:0000646)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Iris coloboma (HP:0000612)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Short metacarpal (HP:0010049)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)