TaoMedAI/RareMedData huggingface dataset:
Gene: NHLRC2
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Chronic hemolytic anemia (HP:0004870)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Atelectasis (HP:0100750)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Irritability (HP:0000737)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Strabismus (HP:0000486)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Anisocytosis (HP:0011273)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Visual impairment (HP:0000505)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: NHLRC2
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS (OMIM:618278)
Gene: FAM111B
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Scoliosis (HP:0002650)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Congenital onset (HP:0003577)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Erysipelas (HP:0001055)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Poikiloderma (HP:0001029)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Joint contracture (HP:0034392)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Alopecia (HP:0001596)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Growth delay (HP:0001510)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: FAM111B
Phenotype: Cataract (HP:0000518)
Associated disease: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS (OMIM:615704)
Gene: DNAJB13
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 34 (OMIM:617091)
Gene: DNAJB13
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 34 (OMIM:617091)
Gene: DNAJB13
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Reduced respiratory ciliary beating frequency (HP:0033158)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 34 (OMIM:617091)
Gene: DNAJB13
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 34 (OMIM:617091)
Gene: DNAJB13
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 34 (OMIM:617091)
Gene: DNAJB13
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Male infertility (HP:0003251)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 34 (OMIM:617091)
Gene: DNAJB13
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 34 (OMIM:617091)
Gene: DNAJB13
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Absent central microtubular pair morphology of respiratory motile cilia (HP:0012264)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 34 (OMIM:617091)
Gene: DNAJB13
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Immotile sperm (HP:0012208)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 34 (OMIM:617091)
Gene: DNAJB13
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 34 (OMIM:617091)
Gene: DNAJB13
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 34 (OMIM:617091)
Gene: DNAJB13
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAJB13
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: PTPRQ
Phenotype: Motor delay (HP:0001270)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
Gene: PTPRQ
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
Gene: PTPRQ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 73 (OMIM:617663)
Gene: PTPRQ
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
Gene: PTPRQ
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 73 (OMIM:617663)
Gene: PTPRQ
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 73 (OMIM:617663)
Gene: PTPRQ
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
Gene: PTPRQ
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 73 (OMIM:617663)
Gene: PTPRQ
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
Gene: KIF7
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Tapered finger (HP:0001182)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Tapered finger (HP:0001182)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIF7
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Gene: KIF7
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIF7
Phenotype: Syndactyly (HP:0001159)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIF7
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIF7
Phenotype: Excessive salivation (HP:0003781)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Duplication of thumb phalanx (HP:0009942)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Gene: KIF7
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIF7
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIF7
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Gene: KIF7
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Motor delay (HP:0001270)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIF7
Phenotype: Seizure (HP:0001250)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIF7
Phenotype: Seizure (HP:0001250)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Hypotonia (HP:0001252)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIF7
Phenotype: Hypotonia (HP:0001252)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Ataxia (HP:0001251)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIF7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIF7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)