Intellectual developmental disorder, X-linked, syndromic, christianson type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, christianson type;

Symbol : MRXSCH;

CISMeF acronym : MRXSCH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, microcephaly, epilepsy, and ataxia syndrome; Angelman-like syndrome, X-linked; Mental retardation, X-linked, syndromic, christianson type;

Description : Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Carrier females may be mildly affected (summary by Schroer et al., 2010).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the solute carrier family 9, isoform A6 gene (SLC9A6, 300231.0001);

Prefixed ID : #300243;

Details

Origin ID

300243;

UMLS CUI

C2678194;

Currated CISMeF NLP mapping
- Christianson syndrome [ORDO Disease]
- Christianson syndrome [DO Concept]
- Mental Retardation, X-Linked Syndromic, Christianson Type [NCIt concept]
- X-linked intellectual developmental disorder Christianson type (disorder) [SNOMED CT concept]
- mental retardation, X-Linked, syndromic, christianson type [MeSH concept]
- mental retardation, X-Linked, syndromic, christianson type [MeSH Supplementary Concept]
DO Cross reference
- Christianson syndrome [DO Concept]
Genes related to phenotype
- Solute carrier family 9, member 6 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Absent speech [HPO term]
- Adducted thumb [HPO term]
- Ataxia [HPO term]
- Bowel incontinence [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased body weight [HPO term]
- Drooling [HPO term]
- Dysphagia [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Happy demeanor [HPO term]
- Hyperkinetic movements [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Interictal epileptiform activity [HPO term]
- Long face [HPO term]
- Long nose [HPO term]
- Long, narrow facies [HPO term]
- Loss of ability to walk in first decade [HPO term]
- Macrotia [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Mutism [HPO term]
- Narrow chest [HPO term]
- Narrow face [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Open mouth [HPO term]
- Ophthalmoplegia [HPO term]
- Photosensitive tonic-clonic seizure [HPO term]
- Profound global developmental delay [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Sleep disturbance [HPO term]
- Slender finger [HPO term]
- Strabismus [HPO term]
- Thick eyebrow [HPO term]
- Truncal ataxia [HPO term]
- Urinary incontinence [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Christianson syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mental Retardation, X-Linked Syndromic, Christianson Type [NCIt concept]
- X-linked intellectual developmental disorder Christianson type (disorder) [SNOMED CT concept]
- mental retardation, X-Linked, syndromic, christianson type [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic, christianson type [MeSH concept]

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