TaoMedAI/RareMedData huggingface dataset:
Gene: CENPE
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Metaphyseal sclerosis (HP:0004979)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Small hand (HP:0200055)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Nystagmus (HP:0000639)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Short stature (HP:0004322)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Cachexia (HP:0004326)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Fetal onset (HP:0011461)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Narrow face (HP:0000275)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Microcephaly (HP:0000252)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Absent earlobe (HP:0000387)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Tonic seizure (HP:0032792)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Micrognathia (HP:0000347)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Round face (HP:0000311)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Macrotia (HP:0000400)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Short foot (HP:0001773)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Prominent nose (HP:0000448)
Associated disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Gene: CENPE
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Sandal gap (HP:0001852)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPE
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Glaucoma (HP:0000501)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CENPE
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CENPE
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CENPE
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CENPF
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Stillbirth (HP:0003826)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Cleft palate (HP:0000175)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Wide mouth (HP:0000154)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Short columella (HP:0002000)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Congenital onset (HP:0003577)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Sclerocornea (HP:0000647)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Iris coloboma (HP:0000612)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Peters anomaly (HP:0000659)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Myopathy (HP:0003198)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Microcephaly (HP:0000252)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Jejunal atresia (HP:0005235)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Low-set ears (HP:0000369)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Micrognathia (HP:0000347)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Hypertelorism (HP:0000316)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Microcornea (HP:0000482)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Deeply set eye (HP:0000490)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Accessory spleen (HP:0001747)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Cataract (HP:0000518)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Bilateral renal hypoplasia (HP:0012584)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CENPF
Phenotype: Microphthalmia (HP:0000568)
Associated disease: STROMME SYNDROME (OMIM:243605)
Gene: CES1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DRUG METABOLISM, ALTERED, CES1-RELATED (OMIM:618057)
Gene: CES1
Phenotype: Abnormal drug response (HP:0020169)
Associated disease: DRUG METABOLISM, ALTERED, CES1-RELATED (OMIM:618057)
Gene: CETP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERALPHALIPOPROTEINEMIA 1 (OMIM:143470)
Gene: CETP
Phenotype: Increased HDL cholesterol concentration (HP:0012184)
Associated disease: HYPERALPHALIPOPROTEINEMIA 1 (OMIM:143470)
Gene: CFL2
Phenotype: Minicore myopathy (HP:0003789)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Z-band streaming (HP:0020203)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Motor delay (HP:0001270)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Areflexia (HP:0001284)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Waddling gait (HP:0002515)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Waddling gait (HP:0002515)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Gowers sign (HP:0003391)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Knee contracture (HP:0034671)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Frequent falls (HP:0002359)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Narrow chest (HP:0000774)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Myopathy (HP:0003198)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Abnormally low-pitched voice (HP:0010300)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Narrow face (HP:0000275)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: High palate (HP:0000218)
Associated disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Gene: CFL2
Phenotype: High palate (HP:0000218)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: CFL2
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Typical nemaline myopathy (ORPHA:171436)