TaoMedAI/RareMedData huggingface dataset:
Gene: FLII
Phenotype: Cleft palate (HP:0000175)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Constipation (HP:0002019)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Infantile onset (HP:0003593)
Associated disease: CARDIOMYOPATHY, DILATED, 2J (OMIM:620635)
Gene: FLII
Phenotype: Impulsivity (HP:0100710)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Large face (HP:0100729)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Vocal cord polyp (HP:0032041)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Hyperacusis (HP:0010780)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Short REM sleep (HP:5200360)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Abnormal pineal melatonin secretion (HP:0012689)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: CARDIOMYOPATHY, DILATED, 2J (OMIM:620635)
Gene: FLII
Phenotype: Taurodontia (HP:0000679)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Synophrys (HP:0000664)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Short stature (HP:0004322)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Abnormal tracheobronchial morphology (HP:0005607)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Anxiety (HP:0000739)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Short nose (HP:0003196)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Microcephaly (HP:0000252)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Obesity (HP:0001513)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Broad forehead (HP:0000337)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: CARDIOMYOPATHY, DILATED, 2J (OMIM:620635)
Gene: FLII
Phenotype: Micrognathia (HP:0000347)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Square face (HP:0000321)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 2J (OMIM:620635)
Gene: FLII
Phenotype: Short philtrum (HP:0000322)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 2J (OMIM:620635)
Gene: FLII
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Strabismus (HP:0000486)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Microcornea (HP:0000482)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Pes planus (HP:0001763)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLII
Phenotype: Myopia (HP:0000545)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: FLNA
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Brachydactyly (HP:0001156)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Syndactyly (HP:0001159)
Associated disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Gene: FLNA
Phenotype: Syndactyly (HP:0001159)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Syndactyly (HP:0001159)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Antegonial notching of mandible (HP:0003779)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Inclusion body fibromatosis (HP:0025197)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Spina bifida (HP:0002414)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Stroke (HP:0001297)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Generalized hypotonia (HP:0001290)
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 fingers (HP:0100807)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Motor delay (HP:0001270)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Seizure (HP:0001250)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Seizure (HP:0001250)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Congenital short bowel syndrome (ORPHA:2301)
Gene: FLNA
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Flat sella turcica (HP:0100857)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Metacarpophalangeal joint contracture (HP:0006070)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Periventricular nodular heterotopia (HP:0032388)
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: Focal-onset seizure (HP:0007359)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Ureteral obstruction (HP:0006000)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Ureteral obstruction (HP:0006000)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Hypotrophy of the small hand muscles (HP:0006006)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Bone marrow maturation arrest (HP:0033606)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Stillbirth (HP:0003826)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Stillbirth (HP:0003826)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Hydroureter (HP:0000072)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Ureteral stenosis (HP:0000071)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Gene: FLNA
Phenotype: Joint stiffness (HP:0001387)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: X-linked Ehlers-Danlos syndrome; EDS V; Ehlers-Danlos syndrome type 5; X-linked EDS (ORPHA:75497)
Gene: FLNA
Phenotype: Joint hypermobility (HP:0001382)
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: Joint hypermobility (HP:0001382)
Associated disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Gene: FLNA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: FLNA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Hypospadias (HP:0000047)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Hypospadias (HP:0000047)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: X-linked Ehlers-Danlos syndrome; EDS V; Ehlers-Danlos syndrome type 5; X-linked EDS (ORPHA:75497)
Gene: FLNA
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: OPD I syndrome; Taybi syndrome; Otopalatodigital syndrome type 1; OPD syndrome 1 (ORPHA:90650)
Gene: FLNA
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: OPD syndrome 2; Otopalatodigital syndrome type 2; OPD II syndrome (ORPHA:90652)
Gene: FLNA
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: Frontometaphyseal dysplasia (ORPHA:1826)
Gene: FLNA
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Partial fusion of carpals (HP:0006207)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Gene: FLNA
Phenotype: Irregular metacarpals (HP:0006160)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Gene: FLNA
Phenotype: Long phalanx of finger (HP:0006155)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FLNA
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Gene: FLNA
Phenotype: Coxa valga (HP:0002673)
Associated disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Gene: FLNA
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FLNA
Phenotype: Coxa valga (HP:0002673)
Associated disease: Melnick-Needles osteodysplasty; Melnick-Needles syndrome (ORPHA:2484)
Gene: FLNA
Phenotype: Coxa valga (HP:0002673)
Associated disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Gene: FLNA
Phenotype: Coxa valga (HP:0002673)
Associated disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Gene: FLNA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)