TaoMedAI/RareMedData huggingface dataset:
Gene: MLXIPL
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Strabismus (HP:0000486)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Small nail (HP:0001792)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Anteverted nares (HP:0000463)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Chronic constipation (HP:0012450)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Hallux valgus (HP:0001822)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Food intolerance (HP:0012537)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: MLXIPL
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Gene: TNNI3K
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNI3K
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Left anterior fascicular block (HP:0011711)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Paroxysmal supraventricular tachycardia (HP:0004763)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Atrial flutter (HP:0004749)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNI3K
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Atrial arrhythmia (HP:0001692)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNI3K
Phenotype: Tachycardia (HP:0001649)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNI3K
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNI3K
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: TNNI3K
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNI3K
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TNNI3K
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:616117)
Gene: SEPSECS
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Motor delay (HP:0001270)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Seizure (HP:0001250)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Spasticity (HP:0001257)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Poor suck (HP:0002033)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Chorea (HP:0002072)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Babinski sign (HP:0003487)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Apnea (HP:0002104)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Clonus (HP:0002169)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Infantile onset (HP:0003593)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Viral infection-induced rhabdomyolysis (HP:0003558)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Upper limb hypertonia (HP:0200049)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Hypoplasia of the ventral pons (HP:0006850)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Irritability (HP:0000737)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Widened cerebellar subarachnoid space (HP:0012765)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Paroxysmal tonic upgaze (HP:0033980)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: SEPSECS
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: SEPSECS
Phenotype: Delayed myelination (HP:0012448)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Gene: ADIPOR1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADIPOR1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Hypochromia (HP:0032231)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Seizure (HP:0001250)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Ataxia (HP:0001251)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Periodic fever (HP:0032323)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Decreased circulating iron concentration (HP:0040303)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Brittle hair (HP:0002299)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Peripheral retinal atrophy (HP:0200070)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Ring scotoma (HP:0030529)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Schistocytosis (HP:0001981)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Anemia (HP:0001903)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Photoreceptor layer loss on macular OCT (HP:0030609)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Macular edema (HP:0040049)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Growth delay (HP:0001510)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRNT1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Gene: TRNT1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Gene: TRNT1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)