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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 ...
- ... Rare Disorders (NORD) ClinicalTrials.gov ... and motor neuron disease? J Neurol. 1999 Jul;246(7):556-61. doi: 10.1007/s004150050403. Citation on PubMed Bakowska ...
- ... 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 ...
- ... movements (dystonia), hearing loss, muscle wasting (atrophy), and intellectual disabilities. In most affected children, a substance called methylmalonic ...
- ... 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, ...
- ... 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 ...
- ... development. Other neurological features include moderate to severe intellectual disability, poor coordination, and difficulty walking. Some affected individuals ...
- ... 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 ...
- ... 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 ...
