Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia

Preferred Label : Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia;

Symbol : NEDFIH;

Type : Phenotype, molecular basis known;

Prefixed ID : #620210;

Details

Origin ID

620210;

UMLS CUI

C5774298;

Genes related to phenotype
- Nedd8-activating enzyme e1, subunit 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Coarctation of aorta [HPO term]
- Decreased circulating IgG concentration [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased total leukocyte count [HPO term]
- Decreased total lymphocyte count [HPO term]
- Delayed CNS myelination [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Joint dislocation [HPO term]
- Joint hypermobility [HPO term]
- Joint stiffness [HPO term]
- Neurodegeneration [HPO term]
- Postnatal growth retardation [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent skin infections [HPO term]
- Recurrent urinary tract infections [HPO term]
- Reduced bone mineral density [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients