Overview
Spinocerebellar ataxia dysmorphism 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.
Abnormal electromyography finding
Very frequent (80-99%)HP:0003457
Back knee
Very frequent (80-99%)HP:0002816
Cerebellar hypoplasia/atrophy
Very frequent (80-99%)HP:0007360
Decreased bone mineral density Z score
Very frequent (80-99%)HP:0004349
Downturned corners of mouth
Very frequent (80-99%)HP:0002714
Eye drop
Very frequent (80-99%)HP:0000508
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Joint ligamentous laxity
Very frequent (80-99%)HP:0001382
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Narrow skull shape
Very frequent (80-99%)HP:0000268
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Outward turned elbows
Very frequent (80-99%)HP:0002967
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Prominent lips
Very frequent (80-99%)HP:0012471
Protruding eyes
Very frequent (80-99%)HP:0000520
Rough hair texture
Very frequent (80-99%)HP:0002208
Skin hyperelasticity
Very frequent (80-99%)HP:0000974
Slender long bone
Very frequent (80-99%)HP:0003100
Decreased body height
Frequent (30-79%)HP:0004322
Large head
Frequent (30-79%)HP:0000256
Optic atrophy
Frequent (30-79%)HP:0000648
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Spina bifida occulta
Frequent (30-79%)HP:0003298
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Spinocerebellar ataxia(parent)
Congenital deformity and malformation of feet and toes(parent)
Congenital degeneration of nervous system(parent)
Dysgenesis of the cerebellum(parent)
Congenital anomaly of spinal cord(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 733033001
- UMLS CUI
- C0796166
- Fully Specified Name
- Spinocerebellar ataxia dysmorphism syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.