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

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

Symbol : MRXSHG;

CISMeF acronym : MRXSHG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic, houge type;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the connector enhancer of KSR 2 gene (CNKSR2, 300724.0001);

Prefixed ID : #301008;

Details

Origin ID

301008;

UMLS CUI

C4538788;

DO Cross reference
- syndromic X-linked mental retardation Hough type [DO Concept]
Genes related to phenotype
- Connector enhancer of kinase suppressor of ras 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Cerebral cortical atrophy [HPO term]
- Continuous spike and waves during slow sleep [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Impulsivity [HPO term]
- Periventricular white matter hyperintensities [HPO term]
- Seizure [HPO term]
- Specific learning disability [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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