← Back to Conditions
Congenital nonprogressive myopathy with Moebius and Robin sequences
disorderSNOMED 429753001CUI C1850746
Overview
Congenital nonprogressive myopathy with Moebius and Robin sequences is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bowel irritability
Always present (100%)HP:0033628
Broad, upturned nose
Always present (100%)HP:0000455
Cataract
Always present (100%)HP:0000518
Cryptorchidism
Always present (100%)HP:0000028
Deglutition disorder
Always present (100%)HP:0002015
Distal limb muscle weakness due to peripheral neuropathy
Always present (100%)HP:0002460
Epilepsy
Always present (100%)HP:0001250
Eyelids stay open
Always present (100%)HP:0030001
Glaucoma
Always present (100%)HP:0000501
No development of motor milestones
Always present (100%)HP:0001270
Proximal neurogenic muscle weakness
Always present (100%)HP:0003701
Retrognathia
Always present (100%)HP:0000278
Sensorineural deafness
Always present (100%)HP:0000407
Spinal rigidity
Always present (100%)HP:0003306
Underdeveloped muscles
Always present (100%)HP:0009004
Weakness of face
Always present (100%)HP:0030319
Aplasia/Hypoplasia of the tongue
Very frequent (80-99%)HP:0010295
Brachydactyly
Very frequent (80-99%)HP:0001156
Central hypotonia
Very frequent (80-99%)HP:0001252
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Eye drop
Very frequent (80-99%)HP:0000508
Facial muscle weakness of muscles innervated by CN VII
Very frequent (80-99%)HP:0010628
Feeding difficulties
Very frequent (80-99%)HP:0011968
Impaired ocular abduction
Very frequent (80-99%)HP:0000634
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Muscle atrophy, neurogenic
Very frequent (80-99%)HP:0003202
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Pierre-Robin sequence
Very frequent (80-99%)HP:0000201
Quick Facts
- SNOMED CT
- 429753001
- UMLS CUI
- C1850746
- Fully Specified Name
- Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.