FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neurodevelopmental disorder with spastic paraplegia and microcephaly ID (Ontology) DOID:0070542 (Human Disease)
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.
Also Known As "autosomal recessive mental retardation 49" ; "glutamate pyruvate transaminase 2 deficiency" ; "GPT2 deficiency" (for all, see Synonyms field below)
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 neurodevelopmental disorder with spastic paraplegia and microcephaly       1
 for disease ribbon | neurodevelopmental disorder with spastic paraplegia and microcephaly       1
 model of | neurodevelopmental disorder with spastic paraplegia and microcephaly       1
Spanning Tree (Parents/Children)
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autosomal recessive disease
 |__autosomal recessive intellectual developmental disorder__
intellectual disability                                      |
 |__autosomal recessive intellectual developmental disorder__|
inherited metabolic disorder                                 |
 |__amino acid metabolic disorder____________________________|
                                                             neurodevelopmental disorder with spastic paraplegia and microcephaly  1 rec.
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Is a autosomal recessive intellectual developmental disorder
amino acid metabolic disorder
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Synonyms
  • "autosomal recessive mental retardation 49" EXACT
    "glutamate pyruvate transaminase 2 deficiency" EXACT
    "GPT2 deficiency" EXACT
    "MRT49" EXACT OMO:0003012
    "NEDSPM" EXACT OMO:0003012
Secondary IDs
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MIM:616281
ORDO:477673
UMLS_CUI:C4225388
UMLS_CUI:C5567787