Overview
Temtamy syndrome 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.
Seizures
Always present (100%)HP:0001250
Coloboma of choroid
Very frequent (80-99%)HP:0000567
Hypoplastic or absent corpus callosum
Very frequent (80-99%)HP:0007370
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Iris coloboma
Very frequent (80-99%)HP:0000612
Poor school performance
Very frequent (80-99%)HP:0001249
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Short toes
Very frequent (80-99%)HP:0001831
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Aortic aneurysm
Frequent (30-79%)HP:0004942
Coarse face
Frequent (30-79%)HP:0000280
Dropped arches
Frequent (30-79%)HP:0001763
Genua vara
Frequent (30-79%)HP:0002970
Hooked nose
Frequent (30-79%)HP:0000444
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Large head
Frequent (30-79%)HP:0000256
Low-set ears
Frequent (30-79%)HP:0000369
Narrow head shape
Frequent (30-79%)HP:0000268
Spasticity and rigidity of muscles
Frequent (30-79%)HP:0001276
Vertical enlargement of face
Frequent (30-79%)HP:0000276
Abnormal palate morphology
Occasional (5-29%)HP:0000174
Curvature of little finger
Occasional (5-29%)HP:0004209
Full lower lip
Occasional (5-29%)HP:0000179
Increased intercanthal distance
Occasional (5-29%)HP:0000506
Joint ligamentous laxity
Occasional (5-29%)HP:0001382
Nanophthalmos
Occasional (5-29%)HP:0000568
Self-mutilation
Occasional (5-29%)HP:0000742
Thick corpus callosum
Occasional (5-29%)HP:0007074
Unbalanced face
Occasional (5-29%)HP:0000324
Abnormality of lens position
HP:0001083
Related Conditions
Congenital anomaly of face bones(parent)
Congenital anomaly of skull(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital ocular coloboma(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of nervous system(parent)
Hereditary disorder of the visual system(parent)
Aplasia of corpus callosum(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 719947004
- UMLS CUI
- C1857512
- Fully Specified Name
- Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (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.