Houge-janssens syndrome 1

Preferred Label : Houge-janssens syndrome 1;

Symbol : HJS1;

CISMeF acronym : MRD35;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 35; MRD35; Intellectual developmental disorder, autosomal dominant 35;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein phosphatase 2, regulatory subunit B (B56), delta gene (PPP2R5D, 601646.0001);

Prefixed ID : #616355;

Details

Origin ID

616355;

UMLS CUI

C5779996;

Automatic exact mappings (from CISMeF team)
- Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 35 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 35 [DO Concept]
Genes related to phenotype
- Protein phosphatase 2, regulatory subunit b (b56), delta [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chronic diarrhea [HPO term]
- Congenital hip dislocation [HPO term]
- Congenital muscular torticollis [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Facial hypotonia [HPO term]
- Fatigue [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Macrocephaly [HPO term]
- Multifocal seizures [HPO term]
- Myopia [HPO term]
- Narrow forehead [HPO term]
- Open mouth [HPO term]
- Ptosis [HPO term]
- Pyloric stenosis [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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