Disease

neurodevelopmental disorder with spastic paraplegia and microcephaly

Definition

An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common.

Synonyms

autosomal recessive mental retardation 49
glutamate pyruvate transaminase 2 deficiency

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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