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Intellectual "disability," autosomal recessive 61
- ... usual. Some affected individuals also have delayed development, intellectual ... called autosomal recessive cutis laxa type 3B (ARCL3B, which is also ...
- Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Muscular Dystrophy Association
- ... unclear how these abnormalities contribute to the developmental disability, seizures, breathing ... hyperglycinemia is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... problems in individuals with Perrault syndrome can include intellectual disability, difficulty with balance and coordinating movements (ataxia), and ... LARS2 TWNK This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... 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, ...
- ... problems. Signs and symptoms of Salla disease include intellectual disability and developmental delay, seizures, problems with movement and ... disease. SLC17A5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/ ... severity. GNPTAB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... children with MPS III. This condition causes progressive intellectual disability and the loss of previously acquired skills (developmental ... NAGLU SGSH This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... development. Other neurological features include moderate to severe intellectual disability, poor coordination, and difficulty walking. Some affected individuals ...
- ... difficulty swallowing (dysphagia), vision and hearing loss, and intellectual disability. An eye abnormality called a cherry-red spot, ... gangliosidosis. HEXA This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
