Mehmo syndrome

Preferred Label : Mehmo syndrome;

Symbol : MEHMO;

CISMeF acronym : MEHMO; MRXSBRK; MRXS20; MRXS25;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic 25; MRXSBRK; MRXS20; MRXS25; Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; Mental retardation, X-linked, syndromic, borck type; Mental retardation, X-linked, syndromic 20;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the eukaryotic translation initiation factor 2, subunit 3 gene (EIF2S3, 300161.0001);

Prefixed ID : #300148;

Détails

Origin ID

300148;

UMLS CUI

C1846278;

Automatic exact mappings (from CISMeF team)
- MEHMO syndrome [ICD-11 More detail]
- mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome [HGNC gene]
Currated CISMeF NLP mapping
- Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder) [SNOMED CT concept]
- MEHMO syndrome [ORDO Disease]
- MEHMO syndrome [DO Concept]
- MEHMO syndrome [MeSH concept]
- MEHMO syndrome [MeSH Supplementary Concept]
DO Cross reference
- MEHMO syndrome [DO Concept]
Genes related to phenotype
- Eukaryotic translation initiation factor 2, subunit 3 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Babinski sign [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Broad nasal tip [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed puberty [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal tip [HPO term]
- Difficulty walking [HPO term]
- Drooling [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypoglycemia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Macrotia [HPO term]
- Male hypogonadism [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Myopia [HPO term]
- Obesity [HPO term]
- Open mouth [HPO term]
- Poor speech [HPO term]
- Seizure [HPO term]
- Small for gestational age [HPO term]
- Spastic tetraparesis [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Tall chin [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
- Widely spaced teeth [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- MEHMO syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder) [SNOMED CT concept]
- MEHMO syndrome [MeSH Supplementary Concept]
- MEHMO syndrome [MeSH concept]
- MEHMO syndrome [ORDO Disease]
- MEHMO syndrome [DO Concept]

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

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