TaoMedAI/RareMedData huggingface dataset:
Gene: MYRF
Phenotype: Scimitar anomaly (HP:0011626)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYRF
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Tachycardia (HP:0001649)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MYRF
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Accessory spleen (HP:0001747)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Gene: MYRF
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFAP410
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Spondylometaphyseal dysplasia (HP:0002657)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Proximal femoral metaphyseal irregularity (HP:0003411)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Photophobia (HP:0000613)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Truncal obesity (HP:0001956)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Central scotoma (HP:0000603)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Short stature (HP:0004322)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Narrow chest (HP:0000774)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Posterior staphyloma (HP:0030856)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Coxa vara (HP:0002812)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP410
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP410
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA (OMIM:617547)
Gene: CFAP410
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CFAP410
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL (OMIM:602271)
Gene: CFAP410
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CFAP410
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CFAP410
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)