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49 Possible Causes for Features in Addition to Mental Retardation Are Variable

  • Cystic Kidney Disease

    Additional variable features included oculomotor apraxia, liver fibrosis, cerebellar vermis hypoplasia, impaired vision, and ocular coloboma.[genome.jp] All patients with RPGRIP1L mutations had nephronophthisis (NPHP) with impaired renal function and mental retardation.[genome.jp]

  • Infantile Choroidocerebral Calcification Syndrome

    retardation and highly variable additional features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the[mendelian.co] […] brain, both between and within families (summary by Cacciagli et al., 2014 ).See {311510} for another X-linked mental retardation syndrome associated with basal ganglia disease[mendelian.co] Seizures Strabismus Hyperreflexia Optic atrophy SOURCES: ORPHANET More info about STURGE-WEBER SYNDROME Low match PETTIGREW SYNDROME; PGS Pettigrew syndrome is characterized by mental[mendelian.co]

  • Congenital Muscular Dystrophy

    Contractures are a common feature, and mental retardation is seen in some. • Skeletal muscle biopsy shows dystrophic change and additional immunohistochemical abnormalities[medlink.com] […] of variable specificity.[medlink.com] Some forms of congenital muscular dystrophy are associated with characteristic features on brain or muscle MRI. • Congenital muscular dystrophy results from abnormalities[medlink.com]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    retardation and highly variable additional features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the[mendelian.co] […] brain, both between and within families (summary by Cacciagli et al., 2014 ).See {311510} for another X-linked mental retardation syndrome associated with basal ganglia disease[mendelian.co] Ataxia SOURCES: GARD MESH UMLS ORPHANET OMIM MONDO More info about MELANOSIS, NEUROCUTANEOUS; NCMS High match PETTIGREW SYNDROME; PGS Pettigrew syndrome is characterized by mental[mendelian.co]

  • Congenital Merosin-Positive Muscular Dystrophy

    […] leading to variable degrees of epilepsy and mental retardation [ 11, 23, 25, 26 ].[content.iospress.com] Additional features have been rarely described [ 24 ] and may include subclinical cardiac involvement and neuronal migration defects associated with diffuse white matter changes[content.iospress.com]

  • Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

    Contractures are a common feature, and mental retardation is seen in some. • Skeletal muscle biopsy shows dystrophic change and additional immunohistochemical abnormalities[medlink.com] […] leading to variable degrees of epilepsy and mental retardation [ 11, 23, 25, 26 ].[content.iospress.com] […] of variable specificity.[medlink.com]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    Contractures are a common feature, and mental retardation is seen in some. • Skeletal muscle biopsy shows dystrophic change and additional immunohistochemical abnormalities[medlink.com] […] of variable specificity.[medlink.com] Some forms of congenital muscular dystrophy are associated with characteristic features on brain or muscle MRI . • Congenital muscular dystrophy results from abnormalities[medlink.com]

  • Congenital Muscular Dystrophy Type 1A

    Contractures are a common feature, and mental retardation is seen in some. • Skeletal muscle biopsy shows dystrophic change and additional immunohistochemical abnormalities[medlink.com] […] of variable specificity.[medlink.com] Some forms of congenital muscular dystrophy are associated with characteristic features on brain or muscle MRI. • Congenital muscular dystrophy results from abnormalities[medlink.com]

  • Muscular Dystrophy-Dystroglycanopathy Type B5

    Contractures are a common feature, and mental retardation is seen in some. • Skeletal muscle biopsy shows dystrophic change and additional immunohistochemical abnormalities[medlink.com] […] of variable specificity.[medlink.com] Some forms of congenital muscular dystrophy are associated with characteristic features on brain or muscle MRI. • Congenital muscular dystrophy results from abnormalities[medlink.com]

  • Polymicrogyria

    […] involvement of the upper extremity, a variable degree of mental retardation, and seizures.[doi.org] Additional clinical features depend on the site and the extent of the cortex affected by the polymicrogyria. 55 Most patients have generalised seizures and develop focal seizures[doi.org] Unilateral polymicrogyria Unilateral polymicrogyria has been reported in different cortical areas (fig 6). 34, 53– 56 Typical features include spastic hemiparesis with primary[doi.org]

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