Intellectual developmental disorder, X-linked, syndromic, snyder-robinson type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, snyder-robinson type;

Symbol : MRXSSR;

CISMeF acronym : MRXSSR; SRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SRS; Snyder-robinson mental retardation syndrome; Mental retardation, X-linked, syndromic, snyder-robinson type;

Description : Snyder-Robinson mental retardation syndrome is an X-linked intellectual disability syndrome with characteristic features including facial asymmetry, marfanoid habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, diminished muscle mass, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia (summary by Zhang et al., 2013).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the spermine synthase gene (SMS, 300105.0001);

Prefixed ID : #309583;

Details

Origin ID

309583;

UMLS CUI

C0796160;

Automatic exact mappings (from CISMeF team)
- SCTR wt Allele [NCIt concept]
- SR-AT [MeSH Supplementary Concept]
- Senior [NCIt concept]
- Somatostatin Receptor Scintigraphy [NCIt concept]
- Strontium [NCIt concept]
- Suriname [NCIt concept]
- Sustained Release Dosage Form [NCIt concept]
Currated CISMeF NLP mapping
- Snyder Robinson syndrome [MeSH concept]
- Snyder-Robinson syndrome [Disease (Nov.)]
- X-linked intellectual disability Snyder type (disorder) [SNOMED CT concept]
- X-linked intellectual disability, Snyder type [ORDO Disease]
- snyder robinson syndrome [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability Snyder type [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability Snyder type [DO Concept]
Genes related to phenotype
- Spermine synthase [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Anteverted nares [HPO term]
- Bifid uvula [HPO term]
- Brachycephaly [HPO term]
- Broad-based gait [HPO term]
- Bulbous nose [HPO term]
- Cleft palate [HPO term]
- Cryptorchidism [HPO term]
- Decreased muscle mass [HPO term]
- Dental crowding [HPO term]
- Dysarthria [HPO term]
- Dysplastic ears [HPO term]
- Facial asymmetry [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High myopia [HPO term]
- High, narrow palate [HPO term]
- Hoarse voice [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Long fingers [HPO term]
- Long hallux [HPO term]
- Long palm [HPO term]
- Long, hyperextensible fingers [HPO term]
- Long, thin hands [HPO term]
- Mandibular prognathia [HPO term]
- Narrow palm [HPO term]
- Nasal speech [HPO term]
- Osteoporosis [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Prominent nasal bridge [HPO term]
- Ptosis [HPO term]
- Recurrent fractures [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Smooth philtrum [HPO term]
- Sparse eyebrow [HPO term]
- Synophrys [HPO term]
- Talipes equinovarus [HPO term]
- Tall stature [HPO term]
- Thick lower lip vermilion [HPO term]
- Thickened calvaria [HPO term]
- Thin bony cortex [HPO term]
- Vertebral compression fracture [HPO term]
- Webbed neck [HPO term]
- Wide intermamillary distance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Snyder type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Snyder Robinson syndrome [MeSH concept]
- Snyder-Robinson syndrome [Disease (Nov.)]
- X-linked intellectual disability Snyder type (disorder) [SNOMED CT concept]
- X-linked intellectual disability, Snyder type [ORDO Disease]
- snyder robinson syndrome [MeSH Supplementary Concept]

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