Houge-janssens syndrome 3

Preferred Label : Houge-janssens syndrome 3;

Symbol : HJS3;

CISMeF acronym : NEDLBA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NEDLBA; Neurodevelopmental disorder and language delay with or without structural brain abnormalities;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein phosphatase 2, catalytic subunit, alpha isoform gene (PPP2CA, 176915.0001);

Prefixed ID : #618354;

Details

Origin ID

618354;

UMLS CUI

C5193048;

Genes related to phenotype
- Protein phosphatase 2, catalytic subunit, alpha isoform [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Broad nasal tip [HPO term]
- Delayed ability to walk [HPO term]
- Delayed myelination [HPO term]
- Delayed speech and language development [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Inguinal hernia [HPO term]
- Macrocephaly [HPO term]
- Megalocornea [HPO term]
- Microcephaly [HPO term]
- Periorbital fullness [HPO term]
- Plagiocephaly [HPO term]
- Proptosis [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Single transverse palmar crease [HPO term]
- Umbilical hernia [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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