Neurodevelopmental disorder with poor language and loss of hand skills

Preferred Label : Neurodevelopmental disorder with poor language and loss of hand skills;

Symbol : NDPLHS;

CISMeF acronym : NDPLHS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-aminobutyric acid B receptor 2 gene (GABBR2, 607340.0007);

Prefixed ID : #617903;

Details

Origin ID

617903;

UMLS CUI

C4693546;

Genes related to phenotype
- Gamma-aminobutyric acid b receptor 2 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Agitation [HPO term]
- Apnea [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bruxism [HPO term]
- Developmental regression [HPO term]
- Dystonia [HPO term]
- Gait disturbance [HPO term]
- Hyperventilation [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Sleep disturbance [HPO term]
- Small hand [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Atypical Rett syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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