Neurodevelopmental disorder with spastic paraplegia and microcephaly

Preferred Label : Neurodevelopmental disorder with spastic paraplegia and microcephaly;

Symbol : NEDSPM;

CISMeF acronym : MRT49;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 49; MRT49;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutamate pyruvate transaminase 2 gene (GPT2, 138210.0001);

Laboratory abnormalities : Decreased alanine in cerebrospinal fluid;

Prefixed ID : #616281;

Details

Origin ID

616281;

UMLS CUI

C4225388;

Automatic exact mappings (from CISMeF team)
- Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome [ORDO Disease]
Genes related to phenotype
- Glutamate pyruvate transaminase 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Encephalopathy [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Flexion contracture [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Posteriorly rotated ears [HPO term]
- Progressive [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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