Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

Preferred Label : Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities;

Symbol : NEDSWMA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebral palsy, spastic quadriplegic, 1; CPSQ1;

Prefixed ID : #619026;

Details

Origin ID

619026;

UMLS CUI

C5436628;

Automatic exact mappings (from CISMeF team)
- GAD1 wt Allele [NCIt concept]
Genes related to phenotype
- 4-hydroxyphenylpyruvate dioxygenase-like [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axial dystonia [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased sensory nerve conduction velocity [HPO term]
- Developmental regression [HPO term]
- Drooling [HPO term]
- Elevated brain lactate level by MRS [HPO term]
- Esodeviation [HPO term]
- Esotropia [HPO term]
- Exodeviation [HPO term]
- External ophthalmoplegia [HPO term]
- Failure to thrive in infancy [HPO term]
- Flexion contracture [HPO term]
- Growth delay [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Progressive [HPO term]
- Respiratory failure requiring assisted ventilation [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Spastic paraplegia [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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