Marbach-rustad progeroid syndrome

Preferred Label : Marbach-rustad progeroid syndrome;

Symbol : MARUPS;

Type : Phenotype, molecular basis known;

Prefixed ID : #619322;

Details

Origin ID

619322;

UMLS CUI

C5543388;

Genes related to phenotype
- Lem domain-containing protein 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- CNS hypomyelination [HPO term]
- Convex nasal ridge [HPO term]
- Delayed eruption of primary teeth [HPO term]
- Eruption failure [HPO term]
- Femur fracture [HPO term]
- Growth delay [HPO term]
- Hyperintensity of cerebral white matter on MRI [HPO term]
- Hypodontia [HPO term]
- Insulin resistance [HPO term]
- Intention tremor [HPO term]
- Intrauterine growth retardation [HPO term]
- Large forehead [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Muscle weakness [HPO term]
- Narrow mouth [HPO term]
- Poor appetite [HPO term]
- Premature rupture of membranes [HPO term]
- Prominent superficial veins [HPO term]
- Proptosis [HPO term]
- Pulmonary insufficiency [HPO term]
- Reduced bone mineral density [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Right bundle branch block [HPO term]
- Shallow orbits [HPO term]
- Short clavicles [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Triangular face [HPO term]
- Ventricular septal hypertrophy [HPO term]
- Wormian bones [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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