Neuromuscular oculoauditory syndrome

Preferred Label : Neuromuscular oculoauditory syndrome;

Symbol : NMOAS;

CISMeF acronym : NMOAS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DEAH-box helicase 16 gene (DHX16, 603405.0001);

Prefixed ID : #618733;

Details

Origin ID

618733;

UMLS CUI

C5231483;

Genes related to phenotype
- Deah-box helicase 16 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Areflexia [HPO term]
- Aspiration [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Calf muscle hypertrophy [HPO term]
- Chorioretinal lacunae [HPO term]
- Decreased amplitude of sensory action potentials [HPO term]
- Decreased nerve conduction velocity [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability [HPO term]
- Knee flexion contracture [HPO term]
- Multiple renal cysts [HPO term]
- Muscle fiber necrosis [HPO term]
- Peripheral hypomyelination [HPO term]
- Periventricular heterotopia [HPO term]
- Poor head control [HPO term]
- Posteriorly rotated ears [HPO term]
- Reduced renal corticomedullary differentiation [HPO term]
- Respiratory distress [HPO term]
- Retinal pigment epithelial mottling [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory axonal neuropathy [HPO term]
- Simple ear [HPO term]
- Slow saccadic eye movements [HPO term]
- Talipes equinovarus [HPO term]
- Unsteady gait [HPO term]
- Wrist flexion contracture [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients