TaoMedAI/RareMedData huggingface dataset:
Gene: B3GAT3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Sandal gap (HP:0001852)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Proptosis (HP:0000520)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Hallux valgus (HP:0001822)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: B3GAT3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: B3GAT3
Phenotype: Esotropia (HP:0000565)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Gene: B3GAT3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: B3GAT3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: B3GAT3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: B3GAT3
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: FBXL4
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Poor head control (HP:0002421)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Hypospadias (HP:0000047)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Scoliosis (HP:0002650)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Babinski sign (HP:0003487)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Type 2 muscle fiber predominance (HP:0010602)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Decreased activity of mitochondrial ATP synthase complex (HP:0011925)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Elevated urine fumaric acid level (HP:0034648)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Anemia (HP:0001903)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Synophrys (HP:0000664)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Short stature (HP:0004322)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Antenatal onset (HP:0030674)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Enlarged fetal cisterna magna (HP:0011427)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Elevated urinary 3-hydroxybutyric acid (HP:0040155)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Epicanthus (HP:0000286)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Narrow face (HP:0000275)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Mitochondrial depletion (HP:0030059)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Growth delay (HP:0001510)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Low-set ears (HP:0000369)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Long philtrum (HP:0000343)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Micrognathia (HP:0000347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Short chin (HP:0000331)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Premature birth (HP:0001622)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Strabismus (HP:0000486)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Short foot (HP:0001773)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Protruding ear (HP:0000411)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Cataract (HP:0000518)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Long eyelashes (HP:0000527)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: FBXL4
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Gene: KLHL3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IID (OMIM:614495)
Gene: KLHL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IID (OMIM:614495)
Gene: KLHL3
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IID (OMIM:614495)
Gene: KLHL3
Phenotype: Pseudohypoaldosteronism (HP:0008242)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IID (OMIM:614495)
Gene: KLHL3
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IID (OMIM:614495)
Gene: KLHL3
Phenotype: Young adult onset (HP:0011462)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IID (OMIM:614495)
Gene: KLHL3
Phenotype: Hyperchloremia (HP:0011423)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IID (OMIM:614495)
Gene: KLHL3
Phenotype: Hypertension (HP:0000822)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IID (OMIM:614495)
Gene: BLOC1S6
Phenotype: Ocular albinism (HP:0001107)
Associated disease: HERMANSKY-PUDLAK SYNDROME 9 (OMIM:614171)
Gene: BLOC1S6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HERMANSKY-PUDLAK SYNDROME 9 (OMIM:614171)
Gene: BLOC1S6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HERMANSKY-PUDLAK SYNDROME 9 (OMIM:614171)
Gene: BLOC1S6
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: HERMANSKY-PUDLAK SYNDROME 9 (OMIM:614171)
Gene: BLOC1S6
Phenotype: Nystagmus (HP:0000639)
Associated disease: HERMANSKY-PUDLAK SYNDROME 9 (OMIM:614171)
Gene: BLOC1S6
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: HERMANSKY-PUDLAK SYNDROME 9 (OMIM:614171)
Gene: BLOC1S6
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: HERMANSKY-PUDLAK SYNDROME 9 (OMIM:614171)