TaoMedAI/RareMedData huggingface dataset:
Gene: TRAF7
Phenotype: Papilledema (HP:0001085)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Pedal edema (HP:0010741)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Bitemporal hemianopia (HP:0030521)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Visual acuity test abnormality (HP:0030532)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Blindness (HP:0000618)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Focal T2 hypointense thalamic lesion (HP:0012691)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Decreased body weight (HP:0004325)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Short stature (HP:0004322)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Impotence (HP:0000802)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Spinal meningioma (HP:0100010)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Intracranial meningioma (HP:0100009)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Emotional lability (HP:0000712)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Abnormal kinetic perimetry test (HP:0030591)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Ear pain (HP:0030766)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Mitral atresia (HP:0011560)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Joint contracture (HP:0034392)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Supravalvar pulmonary stenosis (HP:0034349)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Weak extraocular muscles (HP:0007715)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Epicanthus (HP:0000286)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Microcephaly (HP:0000252)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Obesity (HP:0001513)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Progressive pulmonary function impairment (HP:0006520)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Tinnitus (HP:0000360)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Low-set ears (HP:0000369)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Premature birth (HP:0001622)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Strabismus (HP:0000486)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Short neck (HP:0000470)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Pes planus (HP:0001763)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Enlarged pituitary gland (HP:0012505)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Overlapping toe (HP:0001845)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Long hallux (HP:0001847)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Sandal gap (HP:0001852)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Proptosis (HP:0000520)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Telecanthus (HP:0000506)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Ptosis (HP:0000508)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TRAF7
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Meningioma (ORPHA:2495)
Gene: TRAF7
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Gene: TMEM126A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Variable expressivity (HP:0003828)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Central scotoma (HP:0000603)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Pallor (HP:0000980)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Strabismus (HP:0000486)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Visual impairment (HP:0000505)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM126A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Gene: TMEM126A
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: POLR3GL
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Motor delay (HP:0001270)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Dysarthria (HP:0001260)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Back pain (HP:0003418)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Lumbar kyphosis (HP:0008454)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Amblyopia (HP:0000646)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Oligodontia (HP:0000677)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Bilateral camptodactyly (HP:0005617)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Delayed puberty (HP:0000823)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Motor regression (HP:0033044)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Growth delay (HP:0001510)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Fatigue (HP:0012378)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Progressive hearing impairment (HP:0001730)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Astigmatism (HP:0000483)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Long hallux (HP:0001847)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Proptosis (HP:0000520)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: POLR3GL
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Gene: COQ5
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Oppositional defiant disorder (HP:0010865)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Encephalopathy (HP:0001298)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Ataxia (HP:0001251)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Tremor (HP:0001337)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Myoclonus (HP:0001336)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Dysmetria (HP:0001310)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Type 2 muscle fiber predominance (HP:0010602)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Impulsivity (HP:0100710)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Short attention span (HP:0000736)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Impaired tandem gait (HP:0031629)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: COQ5
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Gene: DNAJC30
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Ataxia (HP:0001251)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: DNAJC30
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Dysarthria (HP:0001260)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Spasticity (HP:0001257)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)