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

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

Symbol : MRXST;

CISMeF acronym : MRXST;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation and macrocephaly syndrome; Brooks-wisniewski-brown syndrome; Mental retardation, X-linked, syndromic, brooks-wisniewski-brown type; Mental retardation, X-linked, with growth retardation, deafness, and microgenitalism; Juberg-marsidi syndrome; JMS; MRXSBWB; Mental retardation, X-linked, syndromic, turner type;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the HECT, UBA, and WWE domains-containing protein 1 gene (HUWE1, 300697.0001);

Prefixed ID : #309590;

Details

Origin ID

309590;

UMLS CUI

C2678046;

Automatic exact mappings (from CISMeF team)
- Brooks-Wisniewski-Brown syndrome [MeSH concept]
- HUWE1 wt Allele [NCIt concept]
- Juberg Marsidi syndrome (disorder) [SNOMED CT concept]
- Juberg-Marsidi syndrome [ORDO Disease]
- mental retardation-hypotonic facies syndrome, x-linked, 1 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- X-linked intellectual disability, Turner type [ORDO Disease]
- mental retardation, X-Linked, syndromic, turner type [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic, turner type [MeSH concept]
- syndromic X-linked intellectual disability Turner type [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability Turner type [DO Concept]
Genes related to phenotype
- Hect, uba, and wwe domains-containing protein 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Blepharophimosis [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Broad nasal tip [HPO term]
- Bulbous nose [HPO term]
- Camptodactyly [HPO term]
- Cerebral atrophy [HPO term]
- Clinodactyly [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus inversus [HPO term]
- Esotropia [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hyperactivity [HPO term]
- Hypermetropia [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypotelorism [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Nystagmus [HPO term]
- Oligodontia [HPO term]
- Optic atrophy [HPO term]
- Overlapping toe [HPO term]
- Pectus excavatum [HPO term]
- Poor coordination [HPO term]
- Posteriorly rotated ears [HPO term]
- Protruding ear [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Sleep disturbance [HPO term]
- Small for gestational age [HPO term]
- Small hand [HPO term]
- Small nail [HPO term]
- Spastic diplegia [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular face [HPO term]
- Trigonocephaly [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
- Wide mouth [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
- X-linked intellectual disability, Turner type [ORDO Disease]
See also inter- (CISMeF)
- Juberg-Marsidi syndrome [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked intellectual disability Brooks type (disorder) [SNOMED CT concept]
- X-linked intellectual disability, Turner type [ORDO Disease]
- mental retardation, X-Linked, syndromic, turner type [MeSH concept]
- mental retardation, X-Linked, syndromic, turner type [MeSH Supplementary Concept]

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