Results 81 -
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Intellectual "disability," autosomal recessive 6
- ... by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected ... cases can be life-threatening and involve profound intellectual disability and major physical abnormalities. Smith-Lemli-Opitz syndrome ...
- ... associated with brain abnormalities and some degree of intellectual disability.Abnormalities of the oral cavity that occur in ... oral-facial-digital syndrome are inherited in an autosomal recessive pattern, which suggests that both copies of a ...
- ... apraxia). Most affected individuals have delayed development and intellectual disability, which can range from mild to severe. Distinctive ... TMEM67 TTC21B ZNF423 Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of ...
- ... 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, ...
- ... of life. People with Salla disease typically have intellectual disabilities and developmental delays, which can make it difficult ... protein. SLC17A5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... abnormalities. Affected children often have seizures and profound intellectual disability. People with GM1 gangliosidosis type I can lose ... disorders. GLB1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... have this condition. Rarely, people with histidinemia have intellectual disabilities, learning disabilities, or behavioral problems. Having a medical ...
- ... developmental delays and eventual loss of developmental milestones, intellectual disabilities, seizures, tremors, and difficulty with balance and coordination ( ...
- ... 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 ...
