TaoMedAI/RareMedData huggingface dataset:
Gene: DOCK7
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Short philtrum (HP:0000322)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Short philtrum (HP:0000322)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Bulbous nose (HP:0000414)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Long eyelashes (HP:0000527)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Telecanthus (HP:0000506)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Telecanthus (HP:0000506)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: DOCK7
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Gene: DOCK7
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Gene: ZFHX2
Phenotype: Painless fractures due to injury (HP:0002661)
Associated disease: MARSILI SYNDROME (OMIM:147430)
Gene: ZFHX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARSILI SYNDROME (OMIM:147430)
Gene: ZFHX2
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: MARSILI SYNDROME (OMIM:147430)
Gene: ZFHX2
Phenotype: Headache (HP:0002315)
Associated disease: MARSILI SYNDROME (OMIM:147430)
Gene: ZFHX2
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: MARSILI SYNDROME (OMIM:147430)
Gene: ZFHX2
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: MARSILI SYNDROME (OMIM:147430)
Gene: ZFHX2
Phenotype: Recurrent fever (HP:0001954)
Associated disease: MARSILI SYNDROME (OMIM:147430)
Gene: ZFHX2
Phenotype: Decreased corneal reflex (HP:0008000)
Associated disease: MARSILI SYNDROME (OMIM:147430)
Gene: ZFHX2
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: MARSILI SYNDROME (OMIM:147430)
Gene: ZFHX2
Phenotype: Corneal scarring (HP:0000559)
Associated disease: MARSILI SYNDROME (OMIM:147430)
Gene: CFAP74
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Childhood onset (HP:0011463)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Male infertility (HP:0003251)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Chronic cough (HP:0034315)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Gene: CFAP74
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP74
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CEP295
Phenotype: Syndactyly (HP:0001159)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Motor delay (HP:0001270)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Pachygyria (HP:0001302)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Congenital onset (HP:0003577)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Absent cupid's bow (HP:0010800)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Low hanging columella (HP:0009765)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Dental crowding (HP:0000678)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Short stature (HP:0004322)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Broad 2nd toe (HP:0100040)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Retrognathia (HP:0000278)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: High palate (HP:0000218)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Sloping forehead (HP:0000340)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Long philtrum (HP:0000343)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Micrognathia (HP:0000347)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Protruding ear (HP:0000411)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: CEP295
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SECKEL SYNDROME 11 (OMIM:620767)
Gene: SELENOI
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Demyelinating motor neuropathy (HP:0007220)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Motor delay (HP:0001270)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Moderately short stature (HP:0008848)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Bifid uvula (HP:0000193)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Cleft palate (HP:0000175)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Gene: SELENOI
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Gene: SELENOI
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)