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Term:
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay (DOID:9007052)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
cataract +     
Hearing Loss +     
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3MC syndrome 3  
Abuse Dwarfism Syndrome 
Adams Nance Syndrome 
AGAT deficiency  
Al Gazali Sabrinathan Nair Syndrome 
Alpha-B Crystallinopathy with Cataract 
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Ataxia-Microcephaly-Cataract Syndrome 
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Bassoe Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Behr Syndrome  
Bhaskar Jagannathan Syndrome 
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
Branchial Arch Syndrome X-Linked 
CAHMR Syndrome 
CAMFAK Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Capsule Opacification 
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 22 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 34 multiple types  
cataract 35 
cataract 36  
cataract 37 
cataract 38  
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 40  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
Cataract 48  
cataract 5 multiple types  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cataract and Congenital Ichthyosis 
Cataract Ataxia Deafness 
Cataract Congenital Dominant Non Nuclear 
Cataract Hutterite Type  
Cataract Microcornea Syndrome  
Cataract, Age-Related Nuclear 
Cataract, Autosomal Dominant Nuclear  
Cataract, Autosomal Recessive Congenital 1 
Cataract, Cortical Pulverulent, Late-Onset 
Cataract, Crystalline Coralliform 
Cataract, Floriform 
Cataract, Lamellar 2  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataract, Polymorphic and Lamellar 
Cataract, Posterior Polar, 5 
Cataract, Progressive Polymorphic Cortical 
Cataract, Pulverulent 
Cataract, Sutural, with Punctate and Cerulean Opacities  
Cataract, Variable Zonular Pulverulent 
Cataract, Zonular Central Nuclear 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Hypoplasia +   
Cerebellofaciodental Syndrome  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome 
chromosome 6pter-p24 deletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
chronic progressive external ophthalmoplegia +   
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Cohen Syndrome  
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus  
Combined Oxidative Phosphorylation Deficiency 3  
Conductive Hearing Loss +   
Cone-Rod Dystrophy and Hearing Loss +   
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital muscular dystrophy with cataracts and intellectual disability  
Cornea Guttata with Anterior Polar Cataract 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Crome Syndrome 
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Deafness +   
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
Deafness, Unilateral, with Delayed Endolymphatic Hydrops  
Deafness-Craniofacial Syndrome 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
diabetic cataract  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Edict Syndrome  
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2  
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Fine-Lubinsky Syndrome 
Flynn Aird Syndrome 
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Functional Hearing Loss 
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Goldstein Hutt Syndrome 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Hearing Loss, Bilateral +   
Hearing Loss, Mixed Conductive-Sensorineural +  
Hearing Loss, Unilateral +   
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hereditary spastic paraplegia 9A  
High-Frequency Hearing Loss  
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperferritinemia-cataract syndrome  
hypermethioninemia due to adenosine kinase deficiency  
Hypertrophic Neuropathy and Cataract 
hypomyelinating leukodystrophy 5  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Iris Dysplasia Hypertelorism Deafness 
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3  
Isolated Microphthalmia with Cataract 4 
ITM2B-related cerebral amyloid angiopathy 2  
Juvenile Cataract, with Microcornea and Glucosuria  
Kahrizi syndrome  
Karandikar Maria Kamble Syndrome 
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
LADD syndrome  
Lamb-Shaffer Syndrome  
Leg, Absence Deformity of, with Congenital Cataract 
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Loucks-Innes Syndrome  
Lubinsky Syndrome 
Luscan-Lumish syndrome  
Marinesco-Sjogren syndrome  
Marshall Syndrome +   
Martsolf syndrome  
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 2  
Microtia, Hearing Impairment, and Cleft Palate  
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 14  
mitochondrial DNA depletion syndrome 15  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial encephalomyopathy +   
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 
Mitochondrial Myopathy with Diabetes 
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Myopathy, and Ataxia  
Mitochondrial Myopathy, Infantile, Transient  
Mitochondrial Myopathy, Lethal Infantile  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mousa Al din Al Nassar Syndrome 
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT  
Myopia, High, with Cataract and Vitreoretinal Degeneration  
myotonic cataract 
Nance-Horan syndrome  
NARP syndrome  
Nathalie Syndrome 
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES 
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Non-Lissencephalic Cortical Dysplasia 
O'Donnell Pappas Syndrome  
Obesity, Hyperphagia, and Developmental Delay  
Oculoskeletodental Syndrome  
Ogden syndrome  
Oliver-McFarlane syndrome  
Optic Atrophy and Cataract, Autosomal Dominant  
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA  
palmoplantar keratoderma and congenital alopecia 2 
Partington Anderson Syndrome 
Pavone Fiumara Rizzo Syndrome 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Peters Anomaly with Cataract 
PHARC syndrome  
Pierpont syndrome  
Polycystic Kidney, Cataract, and Congenital Blindness 
posterior polar cataract  
Premature Aging, Okamoto Type 
Pseudo-TORCH Syndrome +   
Rajab Syndrome  
Reardon Wilson Cavanagh Syndrome 
Refsum Disease with Increased Pipecolic Acidemia 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Roifman-Chitayat Syndrome 
Schaap Taylor Baraitser Syndrome 
Seemanova Lesny Syndrome 
Sengers syndrome  
senile cataract +   
sensorineural hearing loss +   
Seow Najjar Syndrome 
Short Stature, Developmental Delay, and Congenital Heart Defects  
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Singh Chhaparwal Dhanda Syndrome 
Slavotinek Pike Mills Hurst Syndrome 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondyloocular Syndrome, Autosomal Recessive  
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
succinic semialdehyde dehydrogenase deficiency  
syndromic X-linked intellectual disability Abidi type 
Ter Haar Syndrome  
tetanic cataract 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
uveal coloboma-cleft lip and palate-intellectual disability  
VERVERI-BRADY SYNDROME  
Vici syndrome  
Warburg micro syndrome +   
Wellesley Carmen French Syndrome 
Zonular Cataract and Nystagmus  

Synonyms
Exact Synonyms: Mitochondrial Complex Deficiency, Combined ;   Myopathy With Cataract And Combined Respiratory Chain Deficiency
Narrow Synonyms: Myopathy, Progressive Axial With Cataracts
Primary IDs: MESH:C567769
Alternate IDs: OMIM:613076 ;   RDO:0012037

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.