TaoMedAI/RareMedData huggingface dataset:
Gene: PALB2
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Congenital onset (HP:0003577)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Adult onset (HP:0003581)
Associated disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 (OMIM:613348)
Gene: PALB2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PALB2
Phenotype: Absent thumb (HP:0009777)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Short thumb (HP:0009778)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 5 (OMIM:620442)
Gene: PALB2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PALB2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Colon cancer (HP:0003003)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Poor appetite (HP:0004396)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Chromosomal breakage induced by crosslinking agents (HP:0003221)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Jaundice (HP:0000952)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Epicanthus (HP:0000286)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PALB2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Melanoma (HP:0002861)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PALB2
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PALB2
Phenotype: Functional intestinal obstruction (HP:0005249)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Extrahepatic cholestasis (HP:0012334)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Short neck (HP:0000470)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 (OMIM:613348)
Gene: PALB2
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PALB2
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: PALB2
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Gene: PALB2
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: PALB2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: NARS2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 94 (OMIM:618434)
Gene: NARS2
Phenotype: Thickened ears (HP:0009894)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Areflexia (HP:0001284)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Seizure (HP:0001250)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Dysarthria (HP:0001260)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Spasticity (HP:0001257)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 94 (OMIM:618434)
Gene: NARS2
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Vomiting (HP:0002013)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Gliosis (HP:0002171)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Developmental regression (HP:0002376)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Dehydration (HP:0001944)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Myopathy (HP:0003198)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Short nose (HP:0003196)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: NARS2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: NARS2
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 94 (OMIM:618434)
Gene: NARS2
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)