Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis

Preferred Label : Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis;

Symbol : NEDBSS;

CISMeF acronym : NEDBSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glycosylphosphatidylinositol biosynthesis defect 21; GPIBD21;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphatidylinositol glycan anchor biosynthesis class U protein gene (PIGU, 608528.0001);

Laboratory abnormalities : Normal serum alkaline phosphatase;

Prefixed ID : #618590;

Details

Origin ID

618590;

UMLS CUI

C5231419;

Genes related to phenotype
- Phosphatidylinositol glycan anchor biosynthesis class u protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad forehead [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Complete right bundle branch block [HPO term]
- Deeply set eye [HPO term]
- Delayed CNS myelination [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Enlarged cisterna magna [HPO term]
- Epicanthus [HPO term]
- Gastrostomy tube feeding in infancy [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hydrocephalus [HPO term]
- Hypermetropia [HPO term]
- Hypertrichosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, profound [HPO term]
- Intellectual disability, severe [HPO term]
- Joint hypermobility [HPO term]
- Long face [HPO term]
- Long nose [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Narrow forehead [HPO term]
- Neonatal onset [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Osteopenia [HPO term]
- Pectus excavatum [HPO term]
- Pointed chin [HPO term]
- Posteriorly rotated ears [HPO term]
- Profound global developmental delay [HPO term]
- Recurrent infections [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Short nose [HPO term]
- Slender long bone [HPO term]
- Smooth philtrum [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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