TaoMedAI/RareMedData huggingface dataset:
Gene: FARSB
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Vomiting (HP:0002013)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Emphysema (HP:0002097)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Esophageal varix (HP:0002040)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Infantile onset (HP:0003593)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Headache (HP:0002315)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Hypotelorism (HP:0000601)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Anemia (HP:0001903)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Short stature (HP:0004322)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Cough (HP:0012735)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Fetal onset (HP:0011461)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Osteopenia (HP:0000938)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Microcephaly (HP:0000252)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Respiratory failure (HP:0002878)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: High palate (HP:0000218)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Ascites (HP:0001541)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Slender build (HP:0001533)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Small for gestational age (HP:0001518)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Growth delay (HP:0001510)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Persistent head lag (HP:0032988)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Deeply set eye (HP:0000490)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Prominent forehead (HP:0011220)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: FARSB
Phenotype: Pancytopenia (HP:0001876)
Associated disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 (OMIM:613658)
Gene: ABCB6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Periodic paralysis (HP:0003768)
Associated disease: PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK (OMIM:609153)
Gene: ABCB6
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Dyschromatosis universalis hereditaria (ORPHA:241)
Gene: ABCB6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK (OMIM:609153)
Gene: ABCB6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
Gene: ABCB6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
Gene: ABCB6
Phenotype: Freckling (HP:0001480)
Associated disease: Dyschromatosis universalis hereditaria (ORPHA:241)
Gene: ABCB6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK (OMIM:609153)
Gene: ABCB6
Phenotype: Muscle spasm (HP:0003394)
Associated disease: PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK (OMIM:609153)
Gene: ABCB6
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Familial pseudohyperkalemia (ORPHA:90044)
Gene: ABCB6
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK (OMIM:609153)
Gene: ABCB6
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
Gene: ABCB6
Phenotype: Hypopigmented macule (HP:0020073)
Associated disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
Gene: ABCB6
Phenotype: Episodic hemolytic anemia (HP:0004802)
Associated disease: Familial pseudohyperkalemia (ORPHA:90044)
Gene: ABCB6
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Dyschromatosis universalis hereditaria (ORPHA:241)
Gene: ABCB6
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
Gene: ABCB6
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Dyschromatosis universalis hereditaria (ORPHA:241)
Gene: ABCB6
Phenotype: Hand tremor (HP:0002378)
Associated disease: PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK (OMIM:609153)
Gene: ABCB6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: Familial pseudohyperkalemia (ORPHA:90044)
Gene: ABCB6
Phenotype: Spotty hypopigmentation (HP:0005590)
Associated disease: Dyschromatosis universalis hereditaria (ORPHA:241)
Gene: ABCB6
Phenotype: Iris coloboma (HP:0000612)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
Gene: ABCB6
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Familial pseudohyperkalemia (ORPHA:90044)
Gene: ABCB6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Short stature (HP:0004322)
Associated disease: Dyschromatosis universalis hereditaria (ORPHA:241)
Gene: ABCB6
Phenotype: Macule (HP:0012733)
Associated disease: Dyschromatosis universalis hereditaria (ORPHA:241)
Gene: ABCB6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
Gene: ABCB6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: Familial pseudohyperkalemia (ORPHA:90044)
Gene: ABCB6
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial pseudohyperkalemia (ORPHA:90044)
Gene: ABCB6
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Dyschromatosis universalis hereditaria (ORPHA:241)
Gene: ABCB6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Dyschromatosis universalis hereditaria (ORPHA:241)
Gene: ABCB6
Phenotype: Inferior chorioretinal coloboma (HP:0031613)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
Gene: ABCB6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
Gene: ABCB6
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK (OMIM:609153)
Gene: ABCB6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABCB6
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DNM1L
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: OPTIC ATROPHY 5 (OMIM:610708)
Gene: DNM1L
Phenotype: Duane anomaly (HP:0009921)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Motor delay (HP:0001270)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Areflexia (HP:0001284)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Areflexia (HP:0001284)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Seizure (HP:0001250)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Seizure (HP:0001250)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Hypotonia (HP:0001252)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Ataxia (HP:0001251)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Spasticity (HP:0001257)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Inability to walk (HP:0002540)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Dystonia (HP:0001332)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Absent speech (HP:0001344)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Tremor (HP:0001337)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OPTIC ATROPHY 5 (OMIM:610708)
Gene: DNM1L
Phenotype: Scoliosis (HP:0002650)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Self-biting (HP:0012169)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Myalgia (HP:0003326)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Dysphagia (HP:0002015)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Migraine (HP:0002076)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Status epilepticus (HP:0002133)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Middle age onset (HP:0003596)
Associated disease: OPTIC ATROPHY 5 (OMIM:610708)
Gene: DNM1L
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Aphasia (HP:0002381)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Scapular winging (HP:0003691)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Developmental regression (HP:0002376)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)