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Intellectual "disability," autosomal recessive 43
- ... PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013 Apr 4;92( ...
- ... other features of SPENCDI, including movement disorders and intellectual disability, is currently unknown. ACP5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a ... 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 ...
- ... speculate that problems with neuron development underlie microcephaly, intellectual disability, and retinal dystrophy and ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... may also contribute to the skin problems. The intellectual disability that occurs in prolidase deficiency ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006 May;43(5):385-93. doi: 10.1136/jmg.2005. ...
- ... MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED FIBERS CHARCOT- ...
- ... Disorders (NORD) CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, ... B, Boduroglu K, Akarsu NA. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. Am J Med Genet A. 2014 ...
- ... 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, ...
- ... sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and ... genes, pyruvate dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene ...
