Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia

Preferred Label : Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia;

Symbol : NEDIDHA;

CISMeF acronym : NEDIDHA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dedicator of cytokinesis 3 gene (DOCK3, 603123.0001);

Prefixed ID : #618292;

Details

Origin ID

618292;

UMLS CUI

C4749014;

Genes related to phenotype
- Dedicator of cytokinesis 3 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed ability to walk [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyporeflexia [HPO term]
- Long face [HPO term]
- Mandibular prognathia [HPO term]
- Mild short stature [HPO term]
- Pointed chin [HPO term]
- Tapered finger [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
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