Houge-janssens syndrome 2

Preferred Label : Houge-janssens syndrome 2;

Symbol : HJS2;

CISMeF acronym : MRD36;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 36; MRD36; Intellectual developmental disorder, autosomal dominant 36;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein phosphatase 2, structural/regulatory subunit A, alpha gene (PPP2R1A, 605983.0001);

Prefixed ID : #616362;

Details

Origin ID

616362;

UMLS CUI

C4225352;

Currated CISMeF NLP mapping
- Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome [ORDO Disease]
- autosomal dominant non-syndromic intellectual disability 36 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 36 [DO Concept]
Genes related to phenotype
- Protein phosphatase 2, structural/regulatory subunit a, alpha [OMIM gene]
HPO term(s)
- Abnormal hair whorl [HPO term]
- Absent speech [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Cerebral visual impairment [HPO term]
- Chronic constipation [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed gross motor development [HPO term]
- Deviation of the 5th finger [HPO term]
- Downslanted palpebral fissures [HPO term]
- Facial asymmetry [HPO term]
- Facial hypotonia [HPO term]
- Gait ataxia [HPO term]
- Global developmental delay [HPO term]
- Hip dysplasia [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Joint hypermobility [HPO term]
- Microcephaly [HPO term]
- Open mouth [HPO term]
- Pectus excavatum [HPO term]
- Plagiocephaly [HPO term]
- Postaxial polydactyly [HPO term]
- Prominent metopic ridge [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Tented upper lip vermilion [HPO term]
- Unilateral renal agenesis [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- autosomal dominant non-syndromic intellectual disability 36 [DO Concept]

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