Intellectual developmental disorder, X-linked 30

Preferred Label : Intellectual developmental disorder, X-linked 30;

Symbol : XLID30;

CISMeF acronym : MRX30; MRX47;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 47; MRX47; MRX30; Mental retardation, X-linked 30;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the p21-activated kinase 3 gene (PAK3, 300142.0001);

Prefixed ID : #300558;

Details

Origin ID

300558;

UMLS CUI

C0796237;

Automatic exact mappings (from CISMeF team)
- PAK3 wt Allele [NCIt concept]
- X-linked non-syndromic intellectual disability [ORDO Disease]
- mental retardation, X-Linked 47 [MeSH concept]
- mental retardation, X-Linked 47 [MeSH Supplementary Concept]
- non-syndromic X-linked intellectual disability 30 [DO Concept]
- symbol withdrawn MRX30 [HGNC gene]
Currated CISMeF NLP mapping
- mental retardation, X-Linked 30 [MeSH concept]
- mental retardation, X-Linked 30 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 30 [DO Concept]
Genes related to phenotype
- P21 protein-activated kinase 3 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Agitation [HPO term]
- Anteverted nares [HPO term]
- Anxiety [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Brisk reflexes [HPO term]
- Clumsiness [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Drooling [HPO term]
- Epilepsy [HPO term]
- Flat face [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hydrocephalus [HPO term]
- Hyperactivity [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Open mouth [HPO term]
- Poor speech [HPO term]
- Prominent fingertip pads [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent supraorbital ridges [HPO term]
- Psychosis [HPO term]
- Restlessness [HPO term]
- Seizure [HPO term]
- Short attention span [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Sloping forehead [HPO term]
- Speech delay [HPO term]
- Speech difficulties [HPO term]
- Thick upper lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked 30 [MeSH Supplementary Concept]
- mental retardation, X-Linked 30 [MeSH concept]

Keyword's position in hierarchy(ies) :

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