Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Low intelligence
Very frequent (80-99%)HP:0001249
Truncal hypotonia
Very frequent (80-99%)HP:0008936
Abnormal thyroid function
Frequent (30-79%)HP:0002926
Ataxia
Frequent (30-79%)HP:0001251
Brain wasting
Frequent (30-79%)HP:0012444
Choreoathetoid movements
Frequent (30-79%)HP:0001266
Corticospinal signs
Frequent (30-79%)HP:0007256
Decreased BMI
Frequent (30-79%)HP:0045082
Decreased muscle movement
Frequent (30-79%)HP:0002375
Decreased transverse dimension of face
Frequent (30-79%)HP:0000275
Delayed ability to walk
Frequent (30-79%)HP:0031936
Delayed myelination
Frequent (30-79%)HP:0012448
Dystonic disease
Frequent (30-79%)HP:0001332
Failure to thrive in first year of life
Frequent (30-79%)HP:0001531
Fallen arches
Frequent (30-79%)HP:0001763
High blood pressure
Frequent (30-79%)HP:0000822
Increased circulating free T3
Frequent (30-79%)HP:0011788
Increased reflexes
Frequent (30-79%)HP:0001347
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Muscle degeneration
Frequent (30-79%)HP:0003202
Myopathic facial appearance
Frequent (30-79%)HP:0002058
Pectus excavatum
Frequent (30-79%)HP:0000767
Pes valgus
Frequent (30-79%)HP:0008081
Profuse sweating
Frequent (30-79%)HP:0000975
Racing heart
Frequent (30-79%)HP:0001649
respiratory infections, recurrent
Frequent (30-79%)HP:0002205
Speech difficulties
Frequent (30-79%)HP:0000750
Trouble sleeping
Frequent (30-79%)HP:0002360
Vertical enlargement of face
Frequent (30-79%)HP:0000276
Related Conditions
X-linked recessive hereditary disease(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Thyroid hormone responsiveness defect(parent)
X-linked hereditary spastic paraplegia(parent)
Disease of skeletal muscle(parent)
Chronic musculoskeletal disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 702327009
- UMLS CUI
- C0795889
- Fully Specified Name
- Monocarboxylate transporter 8 deficiency (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.