Intellectual developmental disorder, X-linked 9

Preferred Label : Intellectual developmental disorder, X-linked 9;

Symbol : XLID9;

CISMeF acronym : MRX44; MRX9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRX44; Mental retardation, X-linked 44; Mental retardation, X-linked 9; MRX9;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the FTSJ homolog 1 gene (FTSJ1, 300449.0001);

Prefixed ID : #309549;

Details

Origin ID

309549;

UMLS CUI

C0796215;

Currated CISMeF NLP mapping
- mental retardation, X-Linked 9 [MeSH concept]
- mental retardation, X-Linked 9 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 9 [DO Concept]
Genes related to phenotype
- Ftsj rna 2-prime-o-methyltransferase 1 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Autism [HPO term]
- Childhood onset [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, moderate [HPO term]
- Long palpebral fissure [HPO term]
- Macrotia [HPO term]
- Periorbital fullness [HPO term]
- Schizophrenia [HPO term]
- Seizure [HPO term]
- Short distal phalanx of finger [HPO term]
- Thick lower lip vermilion [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked 9 [MeSH Supplementary Concept]
- mental retardation, X-Linked 9 [MeSH concept]

Keyword's position in hierarchy(ies) :

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