Neurodevelopmental disorder with seizures and speech and walking impairment

Preferred Label : Neurodevelopmental disorder with seizures and speech and walking impairment;

Symbol : NEDSSWI;

CISMeF acronym : NEDSSWI;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the deoxyhypusine synthase gene (DHPS, 600944.0001);

Prefixed ID : #618480;

Details

Origin ID

618480;

UMLS CUI

C5193119;

Genes related to phenotype
- Deoxyhypusine synthase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Axial hypotonia [HPO term]
- Brain imaging abnormality [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Constipation [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- EEG abnormality [HPO term]
- Fetal intraventricular hemorrhage [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypotonia [HPO term]
- Increased nuchal translucency [HPO term]
- Infantile onset [HPO term]
- Infra-orbital crease [HPO term]
- Limb hypertonia [HPO term]
- Low-set ears [HPO term]
- Oligohydramnios [HPO term]
- Pica [HPO term]
- Preeclampsia [HPO term]
- Premature birth [HPO term]
- Prominent nasal bridge [HPO term]
- Recurrent hand flapping [HPO term]
- Sacral dimple [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Spasticity [HPO term]
- Thin upper lip vermilion [HPO term]
- Unsteady gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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