TaoMedAI/RareMedData huggingface dataset:
Gene: PUS3
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Genu valgum (HP:0002857)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Strabismus (HP:0000486)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PLVAP
Phenotype: Hematochezia (HP:0002573)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Anasarca (HP:0012050)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Polyuria (HP:0000103)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Pleural effusion (HP:0002202)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Death in infancy (HP:0001522)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Ascites (HP:0001541)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Hyponatremia (HP:0002902)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Low-set ears (HP:0000369)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Micrognathia (HP:0000347)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: PLVAP
Phenotype: Coloboma (HP:0000589)
Associated disease: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:618183)
Gene: ODAD4
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Productive cough (HP:0031245)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Abdominal situs ambiguus (HP:0031565)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 35 (OMIM:617092)
Gene: ODAD4
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
Gene: DNAL1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
Gene: DNAL1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
Gene: DNAL1
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
Gene: DNAL1
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
Gene: DNAL1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
Gene: DNAL1
Phenotype: Abnormal ciliary motility (HP:0012262)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
Gene: DNAL1
Phenotype: Absent outer dynein arms (HP:0012256)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
Gene: DNAL1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
Gene: DNAL1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
Gene: DNAL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
Gene: DNAL1
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAL1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: COG3
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Spasticity (HP:0001257)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Absent speech (HP:0001344)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Joint contracture (HP:0034392)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Long face (HP:0000276)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Long philtrum (HP:0000343)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Tonic seizure (HP:0032792)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Macrotia (HP:0000400)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)