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Intellectual "disability," autosomal recessive 6
- ... 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, ...
- ... from argininosuccinic aciduria may include developmental delay and intellectual disability. Progressive liver damage, high blood pressure (hypertension), skin ...
- ... short stature. Additionally, many affected individuals have mild intellectual disability. Many males with DCMA syndrome have genital abnormalities ... syndrome. DNAJC19 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... III causes significant nervous system symptoms, including severe intellectual disability. Most people with MPS III live into their ...
- ... most people with Aicardi-Goutières syndrome have profound intellectual disabilities. Affected babies are usually extremely irritable and do ... In most cases, it 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 ...
- ... into childhood often have severe developmental delays and intellectual disabilities. The features of this condition often overlap with ... Fryns syndrome appears to be inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) and movement ... in the ARFGEF2 gene is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... the nerves used for muscle movement (motor neuropathy); intellectual disability; exaggerated reflexes (hyperreflexia) of the lower limbs; speech ... axons. SPG11 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... In addition, affected individuals have moderate to severe intellectual disability and distinctive physical features, including short stature; chubbiness; ...
