TaoMedAI/RareMedData huggingface dataset:
Gene: TMEM38B
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TMEM38B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM38B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM38B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM38B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM38B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XIV (OMIM:615066)
Gene: TMEM38B
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TMEM38B
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: TMEM38B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM38B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM38B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: TMEM38B
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: DALRD3
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Gene: DALRD3
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Gene: DALRD3
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Gene: DALRD3
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Gene: DALRD3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Gene: DALRD3
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Gene: DALRD3
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Gene: DALRD3
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Gene: DALRD3
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Gene: DALRD3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Gene: DALRD3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Small for gestational age (HP:0001518)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Gene: DALRD3
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Gene: DALRD3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DALRD3
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: MSTO1
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Motor delay (HP:0001270)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Ataxia (HP:0001251)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Abnormality of globe size (HP:0100887)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Thick hair (HP:0100874)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Thick hair (HP:0100874)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Inability to walk (HP:0002540)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Lipoma (HP:0012032)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Tremor (HP:0001337)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Tremor (HP:0001337)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Dysmetria (HP:0001310)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Myalgia (HP:0003326)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Myalgia (HP:0003326)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Gowers sign (HP:0003391)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Increased muscle glycogen content (HP:0009051)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Short stature (HP:0004322)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Short stature (HP:0004322)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)
Gene: MSTO1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome (ORPHA:502423)
Gene: MSTO1
Phenotype: Anxiety (HP:0000739)
Associated disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA (OMIM:617675)