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

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

Symbol : MRXSL;

CISMeF acronym : MRXSL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mecp2 duplication syndrome; Lubs X-linked mental retardation syndrome; Mental retardation, X-linked, with recurrent respiratory infections;

Inheritance : X-linked recessive;

Molecular basis : Caused by duplication of the methyl-Cp6-binding protein 2 gene (MECP2, 300005.0030);

Laboratory abnormalities : Female carriers show markedly skewed X inactivation;

Prefixed ID : #300260;

Details

Origin ID

300260;

UMLS CUI

C1846058;

Currated CISMeF NLP mapping
- Lubs X-Linked Mental Retardation Syndrome [NCIt concept]
- Lubs X-linked mental retardation syndrome [MeSH concept]
- MECP2 duplication syndrome [ORDO Disease]
- Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) [SNOMED CT concept]
- lubs X-linked mental retardation syndrome [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability Lubs type [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability Lubs type [DO Concept]
Genes related to phenotype
- Methyl-cpg-binding protein 2 [OMIM gene]
HPO term(s)
- 2-3 toe cutaneous syndactyly [HPO term]
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Anxiety [HPO term]
- Ataxia [HPO term]
- Autistic behavior [HPO term]
- Brachycephaly [HPO term]
- Bruxism [HPO term]
- Chorea [HPO term]
- Chronic constipation [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Decreased body weight [HPO term]
- Delayed ability to roll over [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Depressed nasal bridge [HPO term]
- Depression [HPO term]
- Developmental regression [HPO term]
- Drooling [HPO term]
- Dysphagia [HPO term]
- Epicanthus [HPO term]
- Facial hypotonia [HPO term]
- Feeding difficulties [HPO term]
- Flattened nasal bridge [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hostility [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile muscular hypotonia [HPO term]
- Intellectual disability, severe [HPO term]
- Lack of language development [HPO term]
- Low-set ears [HPO term]
- Lower limb spasticity [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Narrow mouth [HPO term]
- Pain insensitivity [HPO term]
- Poor eye contact [HPO term]
- Progressive [HPO term]
- Progressive spasticity [HPO term]
- Prominent nasal bridge [HPO term]
- Ptosis [HPO term]
- Recurrent infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Repetitive compulsive behavior [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Severe infection [HPO term]
- Short foot [HPO term]
- Sleep disturbance [HPO term]
- Status epilepticus [HPO term]
- Tented upper lip vermilion [HPO term]
- Tonic seizure [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
- Widely spaced teeth [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Growth delay [HPO term]
ORDO concept(s)
- MECP2 duplication syndrome [ORDO Disease]
- Proximal Xq28 duplication syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lubs X-Linked Mental Retardation Syndrome [NCIt concept]
- Lubs X-linked mental retardation syndrome [MeSH concept]
- MECP2 duplication syndrome [ORDO Disease]
- Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) [SNOMED CT concept]
- lubs X-linked mental retardation syndrome [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability Lubs type [DO Concept]

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