Intellectual developmental disorder, X-linked 99, syndromic, female-restricted

Preferred Label : Intellectual developmental disorder, X-linked 99, syndromic, female-restricted;

Symbol : MRXS99F;

CISMeF acronym : MRXS99F;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 99, syndromic, female-restricted;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the ubiquitin-specific protease 9 gene, X-linked (USP9X, 300072.0004);

Prefixed ID : #300968;

Details

Origin ID

300968;

UMLS CUI

C4225416;

Automatic exact mappings (from CISMeF team)
- USP9X wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- female-restricted syndromic X-linked intellectual disability 99 [DO Concept]
DO Cross reference
- female-restricted syndromic X-linked intellectual disability 99 [DO Concept]
Genes related to phenotype
- Ubiquitin-specific protease 9, X-linked [OMIM gene]
HPO term(s)
- Abnormal cortical gyration [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of thyroid physiology [HPO term]
- Anal atresia [HPO term]
- Astigmatism [HPO term]
- Atrial septal defect [HPO term]
- Bifid uvula [HPO term]
- Brachycephaly [HPO term]
- Bulbous nose [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Dandy-Walker malformation [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Facial asymmetry [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hip dislocation [HPO term]
- Hip dysplasia [HPO term]
- Hydronephrosis [HPO term]
- Hypermetropia [HPO term]
- Hypertrichosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotelorism [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Lower limb asymmetry [HPO term]
- Myopia [HPO term]
- Narrow forehead [HPO term]
- Patent ductus arteriosus [HPO term]
- Pes cavus [HPO term]
- Postaxial polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Prominent nose [HPO term]
- Recurrent respiratory infections [HPO term]
- Renal dysplasia [HPO term]
- Respiratory distress [HPO term]
- Sacral dimple [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Unilateral breast hypoplasia [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability [ORDO Disease]
See also inter- (CISMeF)
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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