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Intellectual "disability," autosomal recessive 11
- ... limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the ... the disorder that have an inheritance pattern called autosomal recessive.Calpainopathy, or limb-girdle muscular dystrophy type 2A, ...
- ... as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary movements (dystonia). ...
- ... and behavior problems, and in rare cases, severe intellectual disability has been reported. Aarskog-Scott syndrome is believed ... syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although the genetic cause ...
- ... is unclear.People with PGM3-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many ... deficiency. PGM3 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... CLPB deficiency include epilepsy and mild to severe intellectual disability. Neutropenia in these individuals can lead to recurrent ... mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum ...
- ... GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, ... but they may still have developmental delay and intellectual disability. Most have movement problems such as ataxia or ...
- ... apraxia, but some people with the condition have intellectual disability. Ataxia with oculomotor apraxia is a rare condition. ... types of this condition are inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... People with Pol III-related leukodystrophy usually have intellectual disability ranging from mild to severe, which gradually worsens ... normal intelligence in early childhood but develop mild intellectual disability during the course of the disease.Difficulty coordinating ...
- ... The signs and symptoms of this disorder include intellectual disabilities, distinctive facial features, and structural abnormalities in several ... 1 microdeletion. Related features can include delayed development, intellectual ... abnormalities, and neurological and psychiatric problems; however, ...
- ... children usually begin to have delayed speech, mild intellectual disability, and problems coordinating movements. Other features that develop ... spurt resulting in a large head size (macrocephaly).Intellectual disability and movement problems worsen in adolescence. Most people ...
