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Intellectual "disability," autosomal recessive 7
- ... development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen ...
- ... disease experience seizures, vision and hearing loss, and intellectual disability. An eye abnormality called a cherry-red spot, ... genes. HEXB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... common of which is called Dandy-Walker malformation. Intellectual disability, seizures, and other health problems can also occur ... types of MVA syndrome are inherited in an autosomal recessive pattern, which means both copies of the BUB1B, ...
- ... the brain lead to significantly delayed development and intellectual disability. Some individuals with Walker-Warburg syndrome experience seizures. ... POMK RXYLT1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... syndrome is associated with heart (cardiac) abnormalities. Mild intellectual disability has been reported in at least half of ... SKIC2 SKIC3 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... vary from person to person. Affected individuals have intellectual disabilities that worsen with age. Over time, people with ... disorders. FUCA1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... thrive). Long-term complications can include feeding problems, intellectual disabilities, movement problems, chronic kidney disease, and inflammation of ...
- ... children.In very rare cases, delayed development and intellectual disability have been reported in people with the features ... TULP1 USP45 Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both ...
- ... CFEOM3 can include additional neurological problems, such as intellectual disability; difficulty with social skills; a smaller-than-normal ... in their family.CFEOM2 is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... symptoms including an unusually small head size (microcephaly), intellectual disability, seizures, excessive sleeping, and mood swings. Sepiapterin reductase ...
