TaoMedAI/RareMedData huggingface dataset:
Gene: STARD7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Jerk-locked premyoclonus spikes (HP:0001351)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: EEG with irregular generalized spike and wave complexes (HP:0001326)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Enhancement of the C-reflex (HP:0001340)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Tremor (HP:0001337)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Giant somatosensory evoked potentials (HP:0001312)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Migraine (HP:0002076)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Adult onset (HP:0003581)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Nonprogressive (HP:0003680)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Blepharospasm (HP:0000643)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Dementia (HP:0000726)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: EXOSC5
Phenotype: Tapered finger (HP:0001182)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Hypotonia (HP:0001252)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Spasticity (HP:0001257)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Inability to walk (HP:0002540)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Absent speech (HP:0001344)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Dysmetria (HP:0001310)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Pachygyria (HP:0001302)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Wide mouth (HP:0000154)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Dysphagia (HP:0002015)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Tooth malposition (HP:0000692)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Short stature (HP:0004322)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Deviated nasal septum (HP:0004411)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Retrognathia (HP:0000278)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Microcephaly (HP:0000252)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Growth delay (HP:0001510)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Sloping forehead (HP:0000340)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Astigmatism (HP:0000483)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Strabismus (HP:0000486)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Prominent nose (HP:0000448)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Esotropia (HP:0000565)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: EXOSC5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXOSC5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXOSC5
Phenotype: Myopia (HP:0000545)
Associated disease: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS (OMIM:619576)
Gene: SMARCAD1
Phenotype: Tapered finger (HP:0001182)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Tapered finger (HP:0001182)
Associated disease: HURIEZ SYNDROME (OMIM:181600)
Gene: SMARCAD1
Phenotype: Acral blistering (HP:0031045)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Clubbing (HP:0001217)
Associated disease: ADERMATOGLYPHIA (OMIM:136000)
Gene: SMARCAD1
Phenotype: Congenital palmoplantar hyperkeratosis (HP:0007545)
Associated disease: HURIEZ SYNDROME (OMIM:181600)
Gene: SMARCAD1
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Baird syndrome; Absence of dermatoglyphics-congenital milia syndrome; Basan-Baird syndrome; Absence of fingerprints-congenital milia syndrome (ORPHA:1658)
Gene: SMARCAD1
Phenotype: Adermatoglyphia (HP:0007455)
Associated disease: ADERMATOGLYPHIA (OMIM:136000)
Gene: SMARCAD1
Phenotype: Adermatoglyphia (HP:0007455)
Associated disease: HURIEZ SYNDROME (OMIM:181600)
Gene: SMARCAD1
Phenotype: Adermatoglyphia (HP:0007455)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ADERMATOGLYPHIA (OMIM:136000)
Gene: SMARCAD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HURIEZ SYNDROME (OMIM:181600)
Gene: SMARCAD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Knuckle pad (HP:0032541)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Baird syndrome; Absence of dermatoglyphics-congenital milia syndrome; Basan-Baird syndrome; Absence of fingerprints-congenital milia syndrome (ORPHA:1658)
Gene: SMARCAD1
Phenotype: Sclerodactyly (HP:0011838)
Associated disease: Palmoplantar hyperkeratosis-sclerodactyly syndrome; Scleroatrophic syndrome; Palmoplantar keratoderma-sclerodactyly syndrome; Sclerotylosis; Huriez syndrome (ORPHA:384)
Gene: SMARCAD1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: HURIEZ SYNDROME (OMIM:181600)
Gene: SMARCAD1
Phenotype: Cutaneous syndactyly of toes (HP:0010621)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Milia (HP:0001056)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Milia (HP:0001056)
Associated disease: Baird syndrome; Absence of dermatoglyphics-congenital milia syndrome; Basan-Baird syndrome; Absence of fingerprints-congenital milia syndrome (ORPHA:1658)
Gene: SMARCAD1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: HURIEZ SYNDROME (OMIM:181600)
Gene: SMARCAD1
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Palmoplantar hyperkeratosis-sclerodactyly syndrome; Scleroatrophic syndrome; Palmoplantar keratoderma-sclerodactyly syndrome; Sclerotylosis; Huriez syndrome (ORPHA:384)
Gene: SMARCAD1
Phenotype: Thickened skin (HP:0001072)
Associated disease: Baird syndrome; Absence of dermatoglyphics-congenital milia syndrome; Basan-Baird syndrome; Absence of fingerprints-congenital milia syndrome (ORPHA:1658)
Gene: SMARCAD1
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: ADERMATOGLYPHIA (OMIM:136000)
Gene: SMARCAD1
Phenotype: Amniotic constriction ring (HP:0009775)
Associated disease: Baird syndrome; Absence of dermatoglyphics-congenital milia syndrome; Basan-Baird syndrome; Absence of fingerprints-congenital milia syndrome (ORPHA:1658)
Gene: SMARCAD1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Palmoplantar hypohidrosis (HP:0034012)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Skin rash (HP:0000988)
Associated disease: Baird syndrome; Absence of dermatoglyphics-congenital milia syndrome; Basan-Baird syndrome; Absence of fingerprints-congenital milia syndrome (ORPHA:1658)
Gene: SMARCAD1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Palmoplantar hyperkeratosis-sclerodactyly syndrome; Scleroatrophic syndrome; Palmoplantar keratoderma-sclerodactyly syndrome; Sclerotylosis; Huriez syndrome (ORPHA:384)
Gene: SMARCAD1
Phenotype: Dry skin (HP:0000958)
Associated disease: Palmoplantar hyperkeratosis-sclerodactyly syndrome; Scleroatrophic syndrome; Palmoplantar keratoderma-sclerodactyly syndrome; Sclerotylosis; Huriez syndrome (ORPHA:384)