Halperin-birk syndrome

Preferred Label : Halperin-birk syndrome;

Symbol : HLBKS;

CISMeF acronym : NEDSOSB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NEDSOSB; Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SEC31 homolog A, COPII coat complex component gene (SEC31A, 610257.0001);

Prefixed ID : #618651;

Details

Origin ID

618651;

UMLS CUI

C5231442;

Automatic exact mappings (from CISMeF team)
- SEC31A wt Allele [NCIt concept]
Genes related to phenotype
- Sec31 homolog a, copii coat complex component [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Aspiration [HPO term]
- Autosomal recessive inheritance [HPO term]
- Colpocephaly [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Death in childhood [HPO term]
- Developmental cataract [HPO term]
- Failure to thrive [HPO term]
- Flexion contracture [HPO term]
- Focal-onset seizure [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized-onset seizure [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Hip dislocation [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Inability to walk [HPO term]
- Inguinal hernia [HPO term]
- Intrauterine growth retardation [HPO term]
- Long eyelashes [HPO term]
- Micrognathia [HPO term]
- Optic atrophy [HPO term]
- Perimembranous ventricular septal defect [HPO term]
- Pseudobulbar paralysis [HPO term]
- Semilobar holoprosencephaly [HPO term]
- Spastic tetraplegia [HPO term]
- Talipes equinovarus [HPO term]
- Thick vermilion border [HPO term]
- Triangular face [HPO term]
- Umbilical hernia [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