Overview
Clinical overview and emergency guidance are pending physician authorship. Graph-derived data (ontology codes, linked conditions, diagnostic biomarkers) is available below.
Associated Conditions
Conditions associated with this symptom based on HPO disease-phenotype annotations.
Stiff-man syndrome
Frequent (30-79%)
Sandhoff disease
Always present (100%)
Tay-Sachs disease, variant AB
Very frequent (80-99%)
Tay-Sachs disease
Occasional (5-29%)
Fukuyama congenital muscular dystrophy
Occasional (5-29%)
Deficiency of tryptophan decarboxylase
Frequent (30-79%)
B1 variant hexosaminidase A deficiency
Infantile gangliosidosis with bony involvement
Frequent (30-79%)
Sudden infant death with dysgenesis of testes syndrome
Always present (100%)
Hereditary hyperekplexia
Spastic paraplegia, optic atrophy, neuropathy syndrome
Frequent (30-79%)
Purine rich element binding protein A syndrome
Frequent (30-79%)
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
Frequent (30-79%)
Hyperekplexia epilepsy syndrome
Frequent (30-79%)
Phospholipase A2 activating protein-associated neurodevelopmental disorder
Frequent (30-79%)
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
Always present (100%)
Quick Facts
- SNOMED CT
- 19557000
- UMLS CUI
- C0234166
- Fully Specified Name
- Hyperexplexia (finding)
- Associated Conditions
- 16
- Diagnostic Tests
- 0
This information is for educational purposes only. If you are experiencing symptoms, please consult a healthcare provider for proper evaluation and diagnosis.