Intellectual developmental disorder, X-linked, syndromic, stocco dos santos type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, stocco dos santos type;

Symbol : SDSX;

CISMeF acronym : SDSX;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : MRXSDS; Stocco dos santos X-linked mental retardation syndrome; Mental retardation, X-linked, syndromic, stocco dos santos type;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the SHROOM family member 4 gene (SHROOM4, 300579.0001);

Prefixed ID : %300434;

Détails

Origin ID

300434;

UMLS CUI

C1845530;

Currated CISMeF NLP mapping
- X-linked intellectual disability, Stocco Dos Santos type [ORDO Disease]
- stocco dos santos syndrome [MeSH Supplementary Concept]
HPO term(s)
- Absent speech [HPO term]
- Bruxism [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hip dislocation [HPO term]
- Hirsutism [HPO term]
- Hyperactivity [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability, profound [HPO term]
- Kyphosis [HPO term]
- Microcephaly [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Stocco Dos Santos type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stocco dos Santos syndrome [MeSH concept]
- X-linked intellectual disability, Stocco Dos Santos type [ORDO Disease]
- stocco dos santos syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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