| Metadata | |
|---|---|
| ID | DOID:0070542 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/29882329/, https://pubmed.ncbi.nlm.nih.gov/31471722/ |
| Xrefs | |
| SKOS |
exactMatch ORDO:477673 exactMatch MIM:616281 exactMatch UMLS_CUI:C5567787 exactMatch UMLS_CUI:C4225388 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive mental retardation 49 [EXACT] glutamate pyruvate transaminase 2 deficiency [EXACT] GPT2 deficiency [EXACT] MRT49 [EXACT] NEDSPM [EXACT] |
| Parent Relationships |
is_a amino acid metabolic disorder is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |