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

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

Symbol : MRXSBL;

CISMeF acronym : MRX60;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRX60; Mental retardation, X-linked 60; Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the oligophrenin 1 gene (OPHN1, 300127.0001);

Prefixed ID : #300486;

Details

Origin ID

300486;

UMLS CUI

C1845366;

Automatic exact mappings (from CISMeF team)
- OPHN1 wt Allele [NCIt concept]
- X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance [DO Concept]
- mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [MeSH Supplementary Concept]
- mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [MeSH concept]
Currated CISMeF NLP mapping
- X-linked intellectual disability-cerebellar hypoplasia syndrome [ORDO Disease]
DO Cross reference
- X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance [DO Concept]
Genes related to phenotype
- Oligophrenin 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Disorganization of the anterior cerebellar vermis [HPO term]
- Enlarged cisterna magna [HPO term]
- Frontal bossing [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hypotelorism [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Long nose [HPO term]
- Low frustration tolerance [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Mandibular prognathia [HPO term]
- Micropenis [HPO term]
- Microphallus [HPO term]
- Nystagmus [HPO term]
- Prominent forehead [HPO term]
- Prominent nose [HPO term]
- Prominent supraorbital ridges [HPO term]
- Retrocerebellar cyst [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Short philtrum [HPO term]
- Small scrotum [HPO term]
- Spasticity [HPO term]
- Speech delay [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Ventriculomegaly [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability-cerebellar hypoplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked intellectual disability-cerebellar hypoplasia syndrome [ORDO Disease]
- mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [MeSH Supplementary Concept]
- mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [MeSH concept]

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