Neuhauser syndrome

Preferred Label : Neuhauser syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mmr syndrome; Megalocornea-mental retardation syndrome;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Hypercholesterolemia (reported in 2 patients);

Prefixed ID : %249310;

Details

Origin ID

249310;

UMLS CUI

C0796086;

Currated CISMeF NLP mapping
- Megalocornea with intellectual disability syndrome (disorder) [SNOMED CT concept]
- Megalocornea-intellectual disability syndrome [ORDO Disease]
- Neuhauser syndrome [MeSH concept]
- neuhauser syndrome [MeSH Supplementary Concept]
HPO term(s)
- Arachnodactyly [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Broad nasal root [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cupped ear [HPO term]
- Delayed CNS myelination [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysphagia [HPO term]
- Epicanthus [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Genu recurvatum [HPO term]
- Genu valgum [HPO term]
- High palate [HPO term]
- Hypercholesterolemia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the iris [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Iridodonesis [HPO term]
- Large fleshy ears [HPO term]
- Long philtrum [HPO term]
- Low anterior hairline [HPO term]
- Macrocephaly [HPO term]
- Megalocornea [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Mild frontal bossing [HPO term]
- Myopia [HPO term]
- Osteopenia [HPO term]
- Pes planus [HPO term]
- Pes valgus [HPO term]
- Poor coordination [HPO term]
- Primary hypothyroidism [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Wide nasal bridge [HPO term]
Not associated HPO term(s)
- Abnormal intraocular pressure [HPO term]
ORDO concept(s)
- Megalocornea-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Megalocornea with intellectual disability syndrome (disorder) [SNOMED CT concept]
- Megalocornea-intellectual disability syndrome [ORDO Disease]
- Neuhauser syndrome [MeSH concept]
- neuhauser syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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