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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, ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
