Intellectual developmental disorder, X-linked 91

Preferred Label : Intellectual developmental disorder, X-linked 91;

Symbol : XLID91;

CISMeF acronym : MRX91;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mental retardation, X-linked 91; MRX91;

Inheritance : X-linked dominant;

Molecular basis : Balanced reciprocal translocation between chromosomes X and 15;

Laboratory abnormalities : Balanced reciprocal translocation, 46,XX,t(X 15)(q13.3 cen); 100% skewed X-inactivation;

Prefixed ID : %300577;

Détails

Origin ID

300577;

UMLS CUI

C1845142;

Automatic exact mappings (from CISMeF team)
- non-syndromic X-linked intellectual disability 91 [DO Concept]
- zinc finger DHHC-type palmitoyltransferase 15 [HGNC gene]
Currated CISMeF NLP mapping
- mental retardation, X-Linked 91 [MeSH concept]
- mental retardation, X-Linked 91 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 91 [DO Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Absent speech [HPO term]
- Clinodactyly [HPO term]
- Cubitus valgus [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Intellectual disability, mild [HPO term]
- Low posterior hairline [HPO term]
- Macrodontia [HPO term]
- Obesity [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Short 5th finger [HPO term]
- Short foot [HPO term]
- Short nose [HPO term]
- Small hand [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked inheritance [HPO term]
Not associated HPO term(s)
- Short stature [HPO term]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked 91 [MeSH Supplementary Concept]
- mental retardation, X-Linked 91 [MeSH concept]

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