Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies;

Symbol : MRXSPF;

Type : Phenotype, molecular basis known;

Prefixed ID : #301066;

Details

Origin ID

301066;

UMLS CUI

C5561930;

Genes related to phenotype
- Transcription factor for immunoglobulin heavy-chain enhancer 3 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Acanthosis nigricans [HPO term]
- Aggressive behavior [HPO term]
- Amblyopia [HPO term]
- Autistic behavior [HPO term]
- Bifid nose [HPO term]
- Broad long bone diaphyses [HPO term]
- Broad metacarpals [HPO term]
- Broad ribs [HPO term]
- Cholecystitis [HPO term]
- Cholelithiasis [HPO term]
- Chronic constipation [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Coarse facial features [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental regression [HPO term]
- Downslanted palpebral fissures [HPO term]
- EEG with central focal spikes [HPO term]
- EEG with occipital focal spikes [HPO term]
- EEG with parietal focal spikes [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Full cheeks [HPO term]
- Genu valgum [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hip dislocation [HPO term]
- Hip dysplasia [HPO term]
- Hyperlordosis [HPO term]
- Hypertelorism [HPO term]
- Hypoglycemia [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Limited elbow extension [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Multifocal seizures [HPO term]
- Myopia [HPO term]
- Myopic astigmatism [HPO term]
- Obesity [HPO term]
- Open mouth [HPO term]
- Pes planus [HPO term]
- Posteriorly rotated ears [HPO term]
- Precocious puberty [HPO term]
- Ptosis [HPO term]
- Recurrent otitis media [HPO term]
- Seizure [HPO term]
- Short attention span [HPO term]
- Sleep disturbance [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Talipes equinovarus [HPO term]
- Tapered finger [HPO term]
- Thick vermilion border [HPO term]
- Umbilical hernia [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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