TaoMedAI/RareMedData huggingface dataset:
Gene: PGAP3
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Round face (HP:0000311)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Short philtrum (HP:0000322)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Small nail (HP:0001792)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Short neck (HP:0000470)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
Gene: PGAP3
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Esotropia (HP:0000565)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: ODAD1
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ODAD1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Decreased fertility (HP:0000144)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Productive cough (HP:0031245)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Atelectasis (HP:0100750)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Respiratory insufficiency due to defective ciliary clearance (HP:0200073)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ODAD1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ODAD1
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Atrial situs inversus (HP:0011538)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Absent outer dynein arms (HP:0012256)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Rhinorrhea (HP:0031417)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ODAD1
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ODAD1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
Gene: ODAD1
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SYCE1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SYCE1
Phenotype: Spermatogenesis maturation arrest (HP:0031038)
Associated disease: SPERMATOGENIC FAILURE 15 (OMIM:616950)
Gene: SYCE1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SYCE1
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SYCE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 12 (OMIM:616947)
Gene: SYCE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 15 (OMIM:616950)
Gene: SYCE1
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SYCE1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 15 (OMIM:616950)
Gene: SYCE1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SYCE1
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SYCE1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 15 (OMIM:616950)
Gene: SYCE1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PREMATURE OVARIAN FAILURE 12 (OMIM:616947)
Gene: SYCE1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: SYCE1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 15 (OMIM:616950)
Gene: SYCE1
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: PREMATURE OVARIAN FAILURE 12 (OMIM:616947)
Gene: SYCE1
Phenotype: Abnormal circulating testosterone concentration (HP:0030087)
Associated disease: SPERMATOGENIC FAILURE 15 (OMIM:616950)
Gene: SYCE1
Phenotype: Abnormal circulating follicle-stimulating hormone concentration (HP:0030346)
Associated disease: SPERMATOGENIC FAILURE 15 (OMIM:616950)
Gene: SYCE1
Phenotype: Abnormal circulating luteinizing hormone concentration (HP:0030345)
Associated disease: SPERMATOGENIC FAILURE 15 (OMIM:616950)
Gene: SYCE1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: PREMATURE OVARIAN FAILURE 12 (OMIM:616947)
Gene: TRMT10A
Phenotype: Poor speech (HP:0002465)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Severe demyelination of the white matter (HP:0007258)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Motor delay (HP:0001270)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Seizure (HP:0001250)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Slender finger (HP:0001238)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Scoliosis (HP:0002650)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Fine hair (HP:0002213)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Anti-GAD65 antibody (HP:5000011)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Ketosis (HP:0001946)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Oligodontia (HP:0000677)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Slender toe (HP:0011308)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Synophrys (HP:0000664)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Short nose (HP:0003196)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)