TaoMedAI/RareMedData huggingface dataset:
Gene: TMEM70
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Hypertension (HP:0000822)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Retrognathia (HP:0000278)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Microcephaly (HP:0000252)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Death in infancy (HP:0001522)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Growth delay (HP:0001510)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Growth delay (HP:0001510)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Flat face (HP:0012368)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Low-set ears (HP:0000369)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Low-set ears (HP:0000369)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Long philtrum (HP:0000343)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Short philtrum (HP:0000322)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Premature birth (HP:0001622)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Microretrognathia (HP:0000308)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; TMEM70-related mitochondrial encephalo-cardio-myopathy; Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency (ORPHA:1194)
Gene: TMEM70
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Flat occiput (HP:0005469)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TMEM70
Phenotype: Cataract (HP:0000518)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)
Gene: TTC12
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 45 (OMIM:618801)
Gene: TTC12
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 45 (OMIM:618801)
Gene: TTC12
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 45 (OMIM:618801)
Gene: TTC12
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 45 (OMIM:618801)
Gene: TTC12
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Male infertility (HP:0003251)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 45 (OMIM:618801)
Gene: TTC12
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Absent inner and outer dynein arms (HP:0012259)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 45 (OMIM:618801)
Gene: TTC12
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 45 (OMIM:618801)
Gene: TTC12
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: TTC12
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: INTS11
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Narrow palate (HP:0000189)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Bifid uvula (HP:0000193)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Prominent glabella (HP:0002057)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Pontocerebellar atrophy (HP:0006879)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)
Gene: INTS11
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES (OMIM:620428)