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"count": 6723,
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{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14.",
"acronym": "MDDGA14.",
"accession": "DI-03846",
"synonyms": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14.; Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound intellectual disability. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2.",
"acronym": "MDDGA2.",
"accession": "DI-02954",
"synonyms": "Muscle-eye-brain disease POMT2-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.; Walker-Warburg syndrome POMT2-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3.",
"acronym": "MDDGA3.",
"accession": "DI-00792",
"synonyms": "Muscle-eye-brain disease POMGNT1-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.; Walker-Warburg syndrome POMGNT1-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, intellectual disability, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4.",
"acronym": "MDDGA4.",
"accession": "DI-00364",
"synonyms": "Cerebromuscular dystrophy Fukuyama type.; Congenital muscular dystrophy Fukuyama type.; FCMD.; Micropolygyria with muscular dystrophy.; Muscle-eye-brain disease FKTN-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4.; Walker-Warburg syndrome FKTN-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5.",
"acronym": "MDDGA5.",
"accession": "DI-02953",
"synonyms": "Muscle-eye-brain disease FKRP-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5.; Walker-Warburg syndrome FKRP-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6.",
"acronym": "MDDGA6.",
"accession": "DI-02962",
"synonyms": "Muscle-eye-brain disease LARGE-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6.; Walker-Warburg syndrome LARGE-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7.",
"acronym": "MDDGA7.",
"accession": "DI-03441",
"synonyms": "Muscle-eye-brain disease ISPD-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.; Walker-Warburg syndrome ISPD-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8.",
"acronym": "MDDGA8.",
"accession": "DI-03536",
"synonyms": "Muscle-eye-brain disease GTDC2-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8.; Walker-Warburg syndrome GTDC2-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9.",
"acronym": "MDDGA9.",
"accession": "DI-04533",
"synonyms": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9.; Walker-Warburg syndrome or muscle-eye brain disease, DAG1-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1.",
"acronym": "MDDGB1.",
"accession": "DI-02963",
"synonyms": "Muscular dystrophy congenital POMT1-related.; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14.",
"acronym": "MDDGB14.",
"accession": "DI-03847",
"synonyms": "Congenital muscular dystrophy GMPPB-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and intellectual disability. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15.",
"acronym": "MDDGB15.",
"accession": "DI-05900",
"synonyms": "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive, congenital muscular disorder characterized by hyperCKemia, myopathic features observed on muscle biopsy, developmental delay, mildly impaired intellectual development with learning difficulties, epilepsy, and mild white matter abnormalities. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2.",
"acronym": "MDDGB2.",
"accession": "DI-02955",
"synonyms": "Muscular dystrophy congenital POMT2-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3.",
"acronym": "MDDGB3.",
"accession": "DI-02961",
"synonyms": "Muscular dystrophy congenital POMGNT1-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. Clinical features include intellectual disability, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6.",
"acronym": "MDDGB6.",
"accession": "DI-01410",
"synonyms": "Congenital muscular dystrophy type 1D.; MDC1D.; Muscular dystrophy LARGE-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "A congenital muscular dystrophy associated with profound intellectual disability, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha- dystroglycan. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5.",
"acronym": "MDDGB5.",
"accession": "DI-01409",
"synonyms": "MDC1C.; Muscular dystrophy congenital type 1C.; Muscular dystrophy FKRP-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4.",
"acronym": "MDDGB4.",
"accession": "DI-02728",
"synonyms": "Muscular dystrophy congenital FKTN-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of intellectual disability. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy limb-girdle C1.",
"acronym": "MDDGC1.",
"accession": "DI-00668",
"synonyms": "LGMD2K.; LGMDR11.; Limb-girdle muscular dystrophy type 2K.; Muscular dystrophy, limb-girdle, autosomal recessive 11.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.; ",
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive degenerative myopathy associated with mild intellectual disability without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy limb-girdle C12.",
"acronym": "MDDGC12.",
"accession": "DI-04274",
"synonyms": "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12.; ",
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy limb-girdle C14.",
"acronym": "MDDGC14.",
"accession": "DI-03848",
"synonyms": "LGMD2T.; LGMDR19.; Muscular dystrophy, limb-girdle, autosomal recessive 19.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14.; Muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related.; Muscular dystrophy limb-girdle type 2T.; ",
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
}
]
}