Hengel-maroofian-schols syndrome

Preferred Label : Hengel-maroofian-schols syndrome;

Symbol : HEMARS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurodevelopmental disorder with spasticity, facial dysmorphism, and brain abnormalities;

Prefixed ID : #619641;

Details

Origin ID

619641;

UMLS CUI

C5562032;

Genes related to phenotype
- Bcas3 microtubule-associated cell migration factor [OMIM gene]
HPO term(s)
- Abnormal CNS myelination [HPO term]
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Contractures involving the joints of the feet [HPO term]
- Delayed gross motor development [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Gait imbalance [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, severe [HPO term]
- Long face [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Open mouth [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Tetraplegia [HPO term]
- Thick eyebrow [HPO term]
- Thick vermilion border [HPO term]
- Thin corpus callosum [HPO term]
- Tooth malposition [HPO term]
- Upper motor neuron dysfunction [HPO term]
- Wide nasal bridge [HPO term]
- Widely spaced teeth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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