Intellectual developmental disorder, X-linked, syndromic 13

Preferred Label : Intellectual developmental disorder, X-linked, syndromic 13;

Symbol : MRXS13;

CISMeF acronym : MRXS13; MRX16; MRX79; PPMX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation with psychosis, pyramidal signs, and macroorchidism; Mental retardation, X-linked 16; MRX16; Mental retardation, X-linked 79; Mental retardation, X-linked, with spasticity; MRX79; PPMX; Mental retardation, X-linked, syndromic 13;

Description : The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always occurs in females. Males with non-RTT mutations in the MECP2 gene can demonstrate a wide variety of phenotypes, including X-linked mental retardation with spasticity and other variable features, described here, and Lubs X-linked mental retardation syndrome (MRXSL; 300260). Males with RTT-associated MECP2 mutations have neonatal severe encephalopathy that is usually lethal (300673) (Moog et al., 2003; Villard, 2007).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the methyl-CpG-binding protein 2 gene (MECP2, 300005.0009).;

Prefixed ID : #300055;

Details

Origin ID

300055;

UMLS CUI

C0796222;

Automatic exact mappings (from CISMeF team)
- X-linked intellectual disability-psychosis-macroorchidism syndrome [DO Concept]
- X-linked intellectual disability-psychosis-macroorchidism syndrome [ORDO Disease]
- mental retardation with psychosis, pyramidal signs, and macroorchidism [MeSH concept]
- mental retardation with psychosis, pyramidal signs, and macroorchidism [MeSH Supplementary Concept]
- mental retardation, X-Linked 16 [MeSH concept]
- mental retardation, X-Linked 16 [MeSH Supplementary Concept]
- mental retardation, X-Linked 79 [MeSH Supplementary Concept]
- mental retardation, X-Linked 79 [MeSH concept]
- mental retardation, X-Linked, with spasticity [MeSH concept]
- mental retardation, X-Linked, with spasticity [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder) [SNOMED CT concept]
- mental retardation, X-Linked, syndromic 13 [MeSH concept]
DO Cross reference
- X-linked intellectual disability-psychosis-macroorchidism syndrome [DO Concept]
Genes related to phenotype
- Methyl-cpg-binding protein 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Apnea [HPO term]
- Apraxia [HPO term]
- Ataxia [HPO term]
- Autistic behavior [HPO term]
- Babinski sign [HPO term]
- Bradykinesia [HPO term]
- Bruxism [HPO term]
- Choreoathetosis [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Drooling [HPO term]
- Dystonia [HPO term]
- EEG with generalized slow activity [HPO term]
- Emotional lability [HPO term]
- Excessive salivation [HPO term]
- Facial hypotonia [HPO term]
- Flexion contracture [HPO term]
- Global developmental delay [HPO term]
- Gynecomastia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperreflexia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Intellectual disability, severe [HPO term]
- Juvenile cataract [HPO term]
- Kyphoscoliosis [HPO term]
- Macroorchidism [HPO term]
- Macrotia [HPO term]
- Male hypogonadism [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Obesity [HPO term]
- Parkinsonism [HPO term]
- Persistent head lag [HPO term]
- Pes cavus [HPO term]
- Psychosis [HPO term]
- Resting tremor [HPO term]
- Restlessness [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Shuffling gait [HPO term]
- Slowly progressive [HPO term]
- Small hand [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Spastic tetraplegia [HPO term]
- Speech delay [HPO term]
- Tremor [HPO term]
- Wrist flexion contracture [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability-psychosis-macroorchidism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder) [SNOMED CT concept]
- mental retardation, X-Linked 16 [MeSH concept]
- mental retardation, X-Linked 16 [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic 13 [MeSH concept]

Keyword's position in hierarchy(ies) :

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