Neurodevelopmental disorder with seizures and gingival overgrowth

Preferred Label : Neurodevelopmental disorder with seizures and gingival overgrowth;

Symbol : NEDSGO;

Type : Phenotype, molecular basis known;

Prefixed ID : #619323;

Details

Origin ID

619323;

UMLS CUI

C5543395;

Genes related to phenotype
- Tbc1 domain family, member 2b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Cerebellar atrophy [HPO term]
- Childhood onset [HPO term]
- Coarse facial features [HPO term]
- Developmental regression [HPO term]
- EEG with generalized epileptiform discharges [HPO term]
- EEG with occipital epileptiform discharges [HPO term]
- Flexion contracture of toe [HPO term]
- Gait ataxia [HPO term]
- Gingival overgrowth [HPO term]
- Inappropriate crying [HPO term]
- Inappropriate laughter [HPO term]
- Intellectual disability, mild [HPO term]
- Jaw swelling [HPO term]
- Optic atrophy [HPO term]
- Seizure [HPO term]
- Slurred speech [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