Results 1 -
10
of
11
for
Intellectual "disability," autosomal recessive 58
- ... not show signs and symptoms of the condition. ... Deafness-onychoosteodystrophy-intellectual disability syndrome Digitorenocerebral syndrome ...
- ... 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 ...
- ... B Neuropsychiatr Genet. 2007 Jan 5;144B(1):58-63. doi: 10.1002/ajmg.b.30392. Citation ... recessive lissencephaly with cerebellar hypoplasia is associated with human ...
- ... affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult ... a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 ...
- ... the disorder that have an inheritance pattern called autosomal recessive.Calpainopathy, or limb-girdle muscular dystrophy type 2A, ... forms of this condition are inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... 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 ...
- ... involuntary movement of the eyes (nystagmus), and mild intellectual disability.The signs and symptoms vary greatly among individuals ... syndrome. ABHD5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen ...
- ... with Marinesco-Sjögren syndrome have mild to moderate intellectual disability. They also have skeletal abnormalities including short stature ... unknown. SIL1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... have neurological problems such as recurrent seizures (epilepsy), intellectual disability, a small head size (microcephaly), increased muscle tone ( ... DPYD Dihydropyrimidine dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene ...
