TaoMedAI/RareMedData huggingface dataset:
Gene: MSTO1
Phenotype: Anxiety (HP:0000739)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Depression (HP:0000716)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Depression (HP:0000716)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Pallor (HP:0000980)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Long face (HP:0000276)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Long face (HP:0000276)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: High palate (HP:0000218)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Growth delay (HP:0001510)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Growth delay (HP:0001510)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: DARS2
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Motor delay (HP:0001270)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Motor delay (HP:0001270)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Seizure (HP:0001250)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Variable expressivity (HP:0003828)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Slurred speech (HP:0001350)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Absent speech (HP:0001344)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Tremor (HP:0001337)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Tremor (HP:0001337)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Impaired pursuit initiation and maintenance (HP:0007668)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Clumsiness (HP:0002312)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Abnormality of the dorsal column of the spinal cord (HP:0011397)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Diplopia (HP:0000651)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Dysmyelinating leukodystrophy (HP:0006978)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Gene: DARS2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Spastic/hyperactive bladder (HP:0005340)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: DARS2
Phenotype: Ptosis (HP:0000508)
Associated disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Gene: RFWD3
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Spina bifida (HP:0002414)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RFWD3
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)