... 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 ...

... 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 ...

... 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 ...

... area of the brain called the basal ganglia. Intellectual disability has been reported in some affected individuals.The ... cells. PSMB8 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...

... 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 ...

... 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 ...

... may include heart and blood vessel (cardiovascular) problems, intellectual disabilities, behavioral changes, and seizures. TRMA is rare, though ... TRMA. SLC19A2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...