Intellectual developmental disorder, X-linked, syndromic, claes-jensen type

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

Symbol : MRXSCJ;

CISMeF acronym : MRXSCJ; MRXSJ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRXSJ; Mental retardation, X-linked, syndromic, jarid1c-related; Mental retardation, X-linked, syndromic, claes-jensen type;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the Jumonji, AT-rich interactive domain 1C gene gene (JARID1C, 314690.0001);

Prefixed ID : #300534;

Details

Origin ID

300534;

UMLS CUI

C1845243;

Automatic exact mappings (from CISMeF team)
- KDM5C wt Allele [NCIt concept]
- KDM5C-related syndromic X-linked intellectual disability [ORDO Disease]
- mental retardation, X-Linked, syndromic, Jarid1c-Related [MeSH concept]
- mental retardation, X-Linked, syndromic, Jarid1c-Related [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability Claes-Jensen type [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability Claes-Jensen type [DO Concept]
Genes related to phenotype
- Lysine demethylase 5c [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Alopecia areata [HPO term]
- Babinski sign [HPO term]
- Brachydactyly [HPO term]
- Cholelithiasis [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Decreased body weight [HPO term]
- Decreased testicular size [HPO term]
- Deeply set eye [HPO term]
- Diastema [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Facial hypotonia [HPO term]
- Failure to thrive [HPO term]
- Flexion contracture [HPO term]
- Furrowed tongue [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperactivity [HPO term]
- Hypermetropia [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Large hands [HPO term]
- Low frustration tolerance [HPO term]
- Lower limb hyperreflexia [HPO term]
- Lower limb hypertonia [HPO term]
- Lower limb muscle hypotrophy [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Myopia [HPO term]
- Pain insensitivity [HPO term]
- Patchy alopecia [HPO term]
- Pectus excavatum [HPO term]
- Progressive spastic paraplegia [HPO term]
- Prominent nasal bridge [HPO term]
- Protruding ear [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Restlessness [HPO term]
- Seizure [HPO term]
- Short distal phalanx of finger [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Short, thick distal phalanges [HPO term]
- Shuffling gait [HPO term]
- Small feet [HPO term]
- Small forehead [HPO term]
- Smooth philtrum [HPO term]
- Spastic paraplegia, slowly progressive [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Talipes calcaneovarus [HPO term]
- Talipes equinovarus [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- KDM5C-related syndromic X-linked intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- KDM5C-related syndromic X-linked intellectual disability [ORDO Disease]
- mental retardation, X-Linked, syndromic, Jarid1c-Related [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic, Jarid1c-Related [MeSH concept]

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